Staff Profile

Rhys joined Newcastle University in 2017. He is an Honorary Consultant in Epilepsy at the Royal Victoria Infirmary, where he leads on epilepsy and learning disability, genetic testing in the epilepsies. He is a Consultant in the NHS Highly Specialised Service for rare mitochondrial disorders, taking an interest in epilepsy and stroke-like episodes.

Rhys is Co-Director of the Newcastle ERUK Doctoral Hub with Prof Andy Trevelyan an ambitious project that will bring through the brightest young talent locally in a Masters and PhD programme. Amongst our projects is a clinical study of the microbiome in epilepsy, led by Anna Nowicka and co-supervised by Chris Stewart.

His research interests include the causes and consequences of epilepsy - primarily the genetic causes of the epilepsies. With Dr David Lewis-Smith (Wellcome 4Ward North Clinical PhD Fellow) he studies genotypic and phenotypic patterns in common and rare epilepsies including using the Epi25 and UKBiobank. Rhys works closely with SUDEP Action in studying the Epilepsy Death Register, the paediatric paper was published in 2021. Rhys was the 2017 Royal College of Physicians Linacre lecturer. He spoke about the risks and benefits of sodium valproate for women of child-bearing age.

Rhys helped to led a COVID19 study reporting the pattern of neurological and neuropsychiatric features, together with colleagues from the Universities of Southampton, Liverpool and UCL. CoroNerve is a consortium bringing together the ABN, BPNA, BNPA, BASP, NACCS and RCPsych to harmonise case reporting in the UK. Our first 153 notifications was published in Lancet Psychiatry, and the main data in Brain Communications. The paediatric series was in Lancet Child & Adolescent Health. He was the local lead on COVID-CNS a £2.3m UKRI study of the biomarkers of neuropsychiatric features of COVID. 

Rhys is proud to be a Trustee for the Epilepsy Research Institute and was the clinical lead for the Priority Setting Partnership (PSP) led by Epilepsy Research UK, launched in 2021. He is vice-chair of the scientific advisory board for Ring20 research and support. With Dr Arun Soma we are preparing a large community led series of people with ring chromosome 20 disorders.

He is an Associate Editor of Practical Neurology, Web Editor of Seizure and a medical advisor for Epilepsy Action. Since October 2024 he is the President of the British Branch of the International League Against Epilepsy.

Google Scholar: Click here.

Working with Dr Owen Pickrell, Swansea he supports the Epilepsy Research funded Fellow, Dr Kathryn Bush in her study of the epidemiology and mortality of epilepsy and the search for preventable social determinants of health.

Rhys is interested in the interplay between common and rare genetic variants and how these contribute to produce common and rare epilepsies. Dr Hester Garrett, Dr Alex Grundmann and Dr Arun Soma and Dr Alice Willison are working on epilepsy genetics studies.

Alongside colleagues at Cardiff University he is looking at the effects of copy number variation in the general population (Kendall et al. Biol Psychiatry 2017), in families with genetic generalised epilepsy, and in people with drug-resistant juvenile myoclonic epilepsy. In 2013-2014 he had a year on an epilepsy fellowship under Professors Sam Berkovic and Ingrid Scheffer at the University of Melbourne. Here he worked on the Epi4K families project (Brain 2017).

He is a member of -

Epi25

An international consortium utilising deep sequencing techniques at scale to identify rare variants in common epilepsies

The Epi4K Consortium for Familial Epilepsies

Harnessing the power of large families to understand heritability, phenotypic expression and to drive gene discovery (Epi4K, Brain 2017; Epi4k/EPGP Lancet Neurology 2017)

The International League Against Epilepsy Consortium on Complex Epilepsies

Genome wide association studies to understand common epilepsies

BIOJUME

Using indices of ictogenicty to stratify a genome wide association study of people with juvenile myoclonic epilepsy

• Articles

  • Norton AC, Twohig-Bennett C, Smeaton M, Marson A, Armstrong J, Kovac A, Ashby S, Cock H, Coxon A, Dickson JM, Fearon A, Fuller A, Kinney M, Mayne A, McLaughlan T, Mitchell JW, Pardington R, Pullen A, Shankar R, Solomon J, Tittensor P, Wright S, Yandle A, Zuberi S, Cowan K, Thomas RH. Top Ten epilepsy research priorities: A UK priority setting partnership. Seizure 2025, 125, 152-161.
  • Shil RSK, Seed A, Franklyn NE, Sargent BF, Wood GK, Huang Y, Dodd KC, Lilleker JB, Pollak TA, Defres S, Jenkins TM, Davies NWS, Cousins DA, Zandi MS, Jackson TA, Benjamin LA, Easton A, Solomon T, Bradley JR, Chinnery PF, Smith CJ, Nicholson TR, Carson A, Thomas RH, Ellul MA, Wood NW, Breen G, Michael BD. Patients with neurological or psychiatric complications of COVID-19 have worse long-term functional outcomes: COVID-CNS-A multicentre case-control study. Scientific Reports 2025, 15, 3443.
  • Tse Y, Vasey N, Thomas R, Leech S, Owens S, Sayer J. How to use mTOR inhibitors in children. Archives of Disease in Childhood: Education and Practice Edition 2025, epub ahead of print.
  • Landais R, Strong J, Thomas RH. Case series; NUS1 deletions cause a progressive myoclonic epilepsy with ataxia. Seizure 2025, 124, 1-8.
  • Alam AM, Webb GW, Collie C, Mariathasan S, Huang Y, Hilton O, Shil R, Dodd KC, Lilleker JB, Smith CJ, Easton A, Tamborska A, Thomas RH, Davies NWS, Jenkins TM, Zandi M, Benjamin L, Ellul MA, Solomon T, Pollak TA, Nicholson T, Breen G, van Wamelen DJ, Wood NW, Michael BD. Utilising accessible and reproducible neurological assessments in clinical studies: Insights from use of the Neurological Impairment Scale in the multi-centre COVID-CNS study. Clinical Medicine 2024, 24(5), 100241.
  • Epi4K Consortium. The role of copy number variants in the genetic architecture of common familial epilepsies. Epilepsia 2024, 65(3), 792-804.
  • Landais R, Sultan M, Thomas RH. The promise of AI Large Language Models for Epilepsy care. Epilepsy & Behavior 2024, 154, 109747.
  • Gargano MA, Matentzoglu N, Coleman B, Addo-Lartey EB, Anagnostopoulos AV, Anderton J, Avillach P, Bagley AM, Bakstein E, Balhoff JP, Baynam G, Bello SM, Berk M, Bertram H, Bishop S, Blau H, Bodenstein DF, Botas P, Boztug K, Cady J, Callahan TJ, Cameron R, Carbon SJ, Castellanos F, Caufield JH, Chan LE, Chute CG, Cruz-Rojo J, Dahan-Oliel N, Davids JR, de Dieuleveult M, de Souza V, de Vries BBA, de Vries E, DePaulo JR, Derfalvi B, Dhombres F, Diaz-Byrd C, Dingemans AJM, Donadille B, Duyzend M, Elfeky R, Essaid S, Fabrizzi C, Fico G, Firth HV, Freudenberg-Hua Y, Fullerton JM, Gabriel DL, Gilmour K, Giordano J, Goes FS, Moses RG, Green I, Griese M, Groza T, Gu W, Guthrie J, Gyori B, Hamosh A, Hanauer M, Hanusova K, He YO, Hegde H, Helbig I, Holasova K, Hoyt CT, Huang S, Hurwitz E, Jacobsen JOB, Jiang X, Joseph L, Keramatian K, King B, Knoflach K, Koolen DA, Kraus ML, Kroll C, Kusters M, Ladewig MS, Lagorce D, Lai M-C, Lapunzina P, Laraway B, Lewis-Smith D, Li X, Lucano C, Majd M, Marazita ML, Martinez-Glez V, McHenry TH, McInnis MG, McMurry JA, Mihulova M, Millett CE, Mitchell PB, Moslerova V, Narutomi K, Nematollahi S, Nevado J, Nierenberg AA, Cajbikova NN, Nurnberger JI, Ogishima S, Olson D, Ortiz A, Pachajoa H, Perez de Nanclares G, Peters A, Putman T, Rapp CK, Rath A, Reese J, Rekerle L, Roberts AM, Roy S, Sanders SJ, Schuetz C, Schulte EC, Schulze TG, Schwarz M, Scott K, Seelow D, Seitz B, Shen Y, Similuk MN, Simon ES, Singh B, Smedley D, Smith CL, Smolinsky JT, Sperry S, Stafford E, Stefancsik R, Steinhaus R, Strawbridge R, Sundaramurthi JC, Talapova P, Tenorio Castano JA, Tesner P, Thomas RH, Thurm A, Turnovec M, van Gijn ME, Vasilevsky NA, Vlckova M, Walden A, Wang K, Wapner R, Ware JS, Wiafe AA, Wiafe SA, Wiggins LD, Williams AE, Wu C, Wyrwoll MJ, Xiong H, Yalin N, Yamamoto Y, Yatham LN, Yocum AK, Young AH, Yuksel Z, Zandi PP, Zankl A, Zarante I, Zvolsky M, Toro S, Carmody LC, Harris NL, Munoz-Torres MC, Danis D, Mungall CJ, Kohler S, Haendel MA, Robinson PN. The Human Phenotype Ontology in 2024: phenotypes around the world. Nucleic Acids Research 2024, 52(D1), D1333-D1346.
  • Gascoigne SJ, Evans N, Hall G, Kozma C, Panagiotopoulou M, Schroeder GM, Simpson C, Thornton C, Turner F, Woodhouse H, Blickwedel J, Chowdhury F, Diehl B, Duncan JS, Faulder R, Thomas RH, Wilson K, Taylor PN, Wang Y. Incomplete resection of the intracranial electroencephalographic seizure onset zone is not associated with postsurgical outcomes. Epilepsia 2024, 65(9), e163-e169.
  • Bush KJ, Cullen E, Mills S, Chin RFM, Thomas RH, Kingston A, Pickrell WO, Ramsay SE. Assessing the extent and determinants of socioeconomic inequalities in epilepsy in the UK: a systematic review and meta-analysis of evidence. The Lancet Public Health 2024, 9(8), e614-e628.
  • van Wamelen DJ, Rota S, Hartmann M, Martin NH, Alam AM, Thomas RH, Dodd KC, Jenkins T, Smith CJ, Zandi MS, Easton A, Carr G, Benjamin LA, Lilleker JB, Saucer D, Coles AJ, Wood N, Ray Chaudhuri K, Breen G, Michael BD. Addressing ethnic disparities in neurological research in the United Kingdom: An example from the prospective multicentre COVID-19 Clinical Neuroscience Study. Clinical Medicine 2024, 24(3), 100209.
  • Roshandel D, Sanders EJ, Shakeshaft A, Panjwani N, Lin F, Collingwood A, Hall A, Keenan K, Deneubourg C, Mirabella F, Topp S, Zarubova J, Thomas RH, Talvik I, Syvertsen M, Striano P, Smith AB, Selmer KK, Rubboli G, Orsini A, Ng CC, Moller RS, Lim KS, Hamandi K, Greenberg DA, Gesche J, Gardella E, Fong CY, Beier CP, Andrade DM, Jungbluth H, Richardson MP, Pastore A, Fanto M, Pal DK, Strug LJ, Sobiskova Z, Pracoviste C, Kajsova M, Moller RS, Gardella E, Miranda M, Striano P, Orsini A, Bala P, Kitching A, Irwin K, Walding L, Adams L, Jegathasan U, Swingler R, Wane R, Aram J, Mullan D, Ramsay R, Richmond V, Sargent M, Frattaroli P, Taylor M, Home M, Uka S, Kilroy S, Nortcliffe T, Salim H, Holroyd K, McQueen A, Mcaleer D, Jayachandran D, Egginton D, MacDonald B, Chang M, Deekollu D, Gaurav A, Hamilton C, Natarajan J, Takon I, Cotta J, Moran N, Bland J, Belderbos R, Collier H, Henry J, Milner M, White S, Koutroumanidis M, Stern W, Quirk J, Ceballos JP, Papathanasiou A, Stavropoulos I, Lozsadi D, Swain A, Quamina C, Crooks J, Majeed T, Raj S, Patel S, Young M, Maguire M, Ray M, Peacey C, Makawa L, Chhibda A, Sacre E, Begum S, O' Malley M, Yeung L, Holliday C, Woodhead L, Rhodes K, Ellawela S, Glenton J, Calder V, Davis J, McAlinden P, Francis S, Robson L, Lanyon K, Mackay G, Stephen E, Thow C, Connon M, Kirkpatrick M, MacFarlane S, Macleod A, Rice D, Kumar S, Campbell C, Collins V, Whitehouse W, Giavasi C, Petrova B, Brown T, Picton C, O'Donoghue M, West C, Navarra H, Slaght SJ, Edwards C, Gribbin A, Nelson L, Warriner S, Angus-Leppan H, Ehiorobo L, Camara B, Samakomva T, Mohanraj R, Parker V, Pandey R, Charles L, Cotter C, Desurkar A, Hyde A, Harrison R, Reuber M, Clegg R, Sidebottom J, Recto M, Easton P, Waite C, Howell A, Smith J, Mariguddi S, Haslam Z, Galizia E, Cock H, Mencias M, Truscott S, Daly D, Mhandu H, Said N, Rees M, Chung S-K, Pickrell O, Fonferko-Shadrach B, Baker M, Scott F, Ghaus N, Castle G, Bartholomew J, Needle A, Ball J, Clough A, Sastry S, Busby C, Agrawal A, Dickerson D, Duran A, Khan M, Thrasyvoulou L, Irvine E, Tittensor S, Daglish J, Kumar S, Backhouse C, Mewies C, Aram J, Sudarsan N, Sudarsan N, Mullan D, Ramsay R, Richmond V, Skinner D, Sargent M, Bharat R, Sharman S-J, Saraswatula A, Cockerill H. SLCO5A1 and synaptic assembly genes contribute to impulsivity in juvenile myoclonic epilepsy. npj Genomic Medicine 2023, 8(1), 28.
  • Watkins LV, Dunstall H, Musicha C, Lawthom C, John K, Bright C, Richings C, Harding K, Moon S, Pape SE, Winterhalder R, Allgar V, Thomas RH, McLean B, Laugharne R, Shankar R. Rapid switching from levetiracetam to brivaracetam in pharmaco-resistant epilepsy in people with and without intellectual disabilities: a naturalistic case control study. Journal of Neurology 2023, 270, 5889-5902.
  • Stevelink R, Campbell C, Chen S, Abou-Khalil B, Adesoji OM, Afawi Z, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Auce P, Avbersek A, Bahlo M, Baker MD, Balagura G, Balestrini S, Barba C, Barboza K, Bartolomei F, Bast T, Baum L, Baumgartner T, Baykan B, Bebek N, Becker AJ, Becker F, Bennett CA, Berghuis B, Berkovic SF, Beydoun A, Bianchini C, Bisulli F, Blatt I, Bobbili DR, Borggraefe I, Bosselmann C, Braatz V, Bradfield JP, Brockmann K, Brody LC, Buono RJ, Busch RM, Caglayan H, Campbell E, Canafoglia L, Canavati C, Cascino GD, Castellotti B, Catarino CB, Cavalleri GL, Cerrato F, Chassoux F, Cherny SS, Cheung C-L, Chinthapalli K, Chou I-J, Chung S-K, Churchhouse C, Clark PO, Cole AJ, Compston A, Coppola A, Cosico M, Cossette P, Craig JJ, Cusick C, Daly MJ, Davis LK, de Haan G-J, Delanty N, Depondt C, Derambure P, Devinsky O, Di Vito L, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Elger CE, Ellis CA, Eriksson JG, Faucon A, Feng Y-CA, Ferguson L, Ferraro TN, Ferri L, Feucht M, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, Franke A, French JA, Freri E, Gagliardi M, Gambardella A, Geller EB, Giangregorio T, Gjerstad L, Glauser T, Goldberg E, Goldman A, Granata T, Greenberg DA, Guerrini R, Gupta N, Haas KF, Hakonarson H, Hallmann K, Hassanin E, Hegde M, Heinzen EL, Helbig I, Hengsbach C, Heyne HO, Hirose S, Hirsch E, Hjalgrim H, Howrigan DP, Hucks D, Hung P-C, Iacomino M, Imbach LL, Inoue Y, Ishii A, Jamnadas-Khoda J, Jehi L, Johnson MR, Kalviainen R, Kamatani Y, Kanaan M, Kanai M, Kantanen A-M, Kara B, Kariuki SM, Kasperaviciute D, Kasteleijn-Nolst Trenite D, Kato M, Kegele J, Kesim Y, Khoueiry-Zgheib N, King C, Kirsch HE, Klein KM, Kluger G, Knake S, Knowlton RC, Koeleman BPC, Korczyn AD, Koupparis A, Kousiappa I, Krause R, Krenn M, Krestel H, Krey I, Kunz WS, Kurki MI, Kurlemann G, Kuzniecky R, Kwan P, Labate A, Lacey A, Lal D, Landoulsi Z, Lau Y-L, Lauxmann S, Leech SL, Lehesjoki A-E, Lemke JR, Lerche H, Lesca G, Leu C, Lewin N, Lewis-Smith D, Li GH-Y, Li QS, Licchetta L, Lin K-L, Lindhout D, Linnankivi T, Lopes-Cendes I, Lowenstein DH, Lui CHT, Madia F, Magnusson S, Marson AG, May P, McGraw CM, Mei D, Mills JL, Minardi R, Mirza N, Moller RS, Molloy AM, Montomoli M, Mostacci B, Muccioli L, Muhle H, Muller-Schluter K, Najm IM, Nasreddine W, Neale BM, Neubauer B, Newton CRJC, Nothen MM, Nothnagel M, Nurnberg P, O'Brien TJ, Okada Y, Olafsson E, Oliver KL, Ozkara C, Palotie A, Pangilinan F, Papacostas SS, Parrini E, Pato CN, Pato MT, Pendziwiat M, Petrovski S, Pickrell WO, Pinsky R, Pippucci T, Poduri A, Pondrelli F, Powell RHW, Privitera M, Rademacher A, Radtke R, Ragona F, Rau S, Rees MI, Regan BM, Reif PS, Rhelms S, Riva A, Rosenow F, Ryvlin P, Saarela A, Sadleir LG, Sander JW, Sander T, Scala M, Scattergood T, Schachter SC, Schankin CJ, Scheffer IE, Schmitz B, Schoch S, Schubert-Bast S, Schulze-Bonhage A, Scudieri P, Sham P, Sheidley BR, Shih JJ, Sills GJ, Sisodiya SM, Smith MC, Smith PE, Sonsma ACM, Speed D, Sperling MR, Stefansson H, Stefansson K, Steinhoff BJ, Stephani U, Stewart WC, Stipa C, Striano P, Stroink H, Strzelczyk A, Surges R, Suzuki T, Tan KM, Taneja RS, Tanteles GA, Tauboll E, Thio LL, Thomas GN, Thomas RH, Timonen O, Tinuper P, Todaro M, Topaloglu P, Tozzi R, Tsai M-H, Tumiene B, Turkdogan D, Unnsteinsdottir U, Utkus A, Vaidiswaran P, Valton L, van Baalen A, Vetro A, Vining EPG, Visscher F, von Brauchitsch S, von Wrede R, Wagner RG, Weber YG, Weckhuysen S, Weisenberg J, Weller M, Widdess-Walsh P, Wolff M, Wolking S, Wu D, Yamakawa K, Yang W, Yapici Z, Yucesan E, Zagaglia S, Zahnert F, Zara F, Zhou W, Zimprich F, Zsurka G, Zulfiqar Ali Q. GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture. Nature Genetics 2023, 55, 1471–1482.
  • Montanucci L, Lewis-Smith D, Collins RL, Niestroj L-M, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M, Epi25 Collaborative, Helbig I, Leu C, Lal D. Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals. Nature Communications 2023, 14, 4392.
  • Laskier V, Agyei-Kyeremateng KK, Eddy AE, Patel D, Mulheron S, James S, Thomas RH, Sander JW. Cost-effectiveness of cenobamate for focal seizures in people with drug-resistant epilepsy. Epilepsia 2023, 64(4), 843-856.
  • Horsley JJ, Thomas RH, Chowdhury FA, Diehl B, McEvoy AW, Miserocchi A, de Tisi J, Vos SB, Walker MC, Winston GP, Duncan JS, Wang Y, Taylor PN. Complementary structural and functional abnormalities to localise epileptogenic tissue. eBioMedicine 2023, 97, 104848.
  • Simpson AJ, Allen J-L, Chatwin M, Crawford H, Elverson J, Ewan V, Forton J, McMullan R, Plevris J, Renton K, Tedd H, Thomas R, Legg J. BTS clinical statement on aspiration pneumonia. Thorax 2023, 78(Suppl. 1), s3-s21.
  • McLeod F, Dimtsi A, Marshall AC, Lewis-Smith DJ, Thomas R, Clowry GJ, Trevelyan AJ. Altered synaptic connectivity in an in vitro human model of STXBP1 encephalopathy. Brain 2023, 146(3), 850-857.
  • Gascoigne SJ, Waldmann L, Schroeder GM, Panagiotopoulou M, Blickwedel J, Chowdhury F, Cronie A, Diehl B, Duncan JS, Falconer J, Faulder R, Guan Y, Leach V, Livingstone S, Papasavvas C, Thomas RH, Wilson K, Taylor PN, Wang Y. A library of quantitative markers of seizure severity. Epilepsia 2023, 64(4), 1074-1086.
  • Horsley JJ, Schroeder GM, Thomas RH, de Tisi J, Vos SB, Winston GP, Duncan JS, Wang Y, Taylor PN. Volumetric and structural connectivity abnormalities co-localise in TLE. NeuroImage: Clinical 2022, 35, 103105.
  • Parenti I, Leitao E, Kuechler A, Villard L, Goizet C, Courdier C, Bayat A, Rossi A, Julia S, Bruel A-L, Tran Mau-Them F, Nambot S, Lehalle D, Willems M, Lespinasse J, Ghoumid J, Caumes R, Smol T, El Chehadeh S, Schaefer E, Abi-Warde M-T, Keren B, Afenjar A, Tabet A-C, Levy J, Maruani A, Aledo-Serrano A, Garming W, Milleret-Pignot C, Chassevent A, Koopmans M, Verbeek NE, Person R, Belles R, Bellus G, Salbert BA, Kaiser FJ, Mazzola L, Convers P, Perrin L, Piton A, Wiegand G, Accogli A, Brancati F, Benfenati F, Chatron N, Lewis-Smith D, Thomas RH, Zara F, Striano P, Lesca G, Depienne C. The different clinical facets of SYN1-related neurodevelopmental disorders. Frontiers in Cell and Developmental Biology 2022, 10, 1019715.
  • Lariviere S, Royer J, Rodriguez-Cruces R, Paquola C, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda CL, Bonilha L, Gleichgerrcht E, Focke NK, Domin M, von Podewills F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, O'Brien TJ, Sinclair B, Vivash L, Desmond PM, Lui E, Vaudano AE, Meletti S, Tondelli M, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kalviainen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Winston GP, Griffin A, Singh A, Tiwari VK, Kreilkamp BAK, Lenge M, Guerrini R, Hamandi K, Foley S, Ruber T, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Tortora D, Kaestner E, Hatton SN, Vos SB, Caciagli L, Duncan JS, Whelan CD, Thompson PM, Sisodiya SM, Bernasconi A, Labate A, McDonald CR, Bernasconi N, Bernhardt BC. Structural network alterations in focal and generalized epilepsy assessed in a worldwide ENIGMA study follow axes of epilepsy risk gene expression. Nature Communications 2022, 13(1), 4320.
  • Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, Beier CP, Fong CY, Gardella E, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Moller RS, Ng CC, Orsini A, Rees MI, Rubboli G, Selmer KK, Striano P, Syvertsen M, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK. Sex-specific disease modifiers in juvenile myoclonic epilepsy. Scientific Reports 2022, 12(1), 2785.
  • Thomas RH, Hunter A, Butterworth L, Feeney C, Graves TD, Holmes S, Hossain P, Lowndes J, Sharpe J, Upadhyaya S, Varhaug KN, Votruba M, Wheeler R, Staley K, Rahman S. Research priorities for mitochondrial disorders: Current landscape and patient and professional views. J Inherit Metabolic Diisease 2022, 45(4), 796-803.
  • Stamberger H, Crosiers D, Balagura G, Bonardi CM, Basu A, Cantalupo G, Chiesa V, Christensen J, Bernardina BD, Ellis CA, Furia F, Gardiner F, Giron C, Guerrini R, Klein KM, Korff C, Krijtova H, Leffner M, Lerche H, Lesca G, Lewis-Smith David, Marini C, Marjanovic D, Mazzola L, McKeownRuggiero S, Mochel F, Ramond F, Reif PS, Richard-Mornas A, Rosenow F, Schropp C, Thomas RH, Vignoli A, Weber Y, Palmer E, Helbig I, Scheffer IE, Striano P, Møller RS, Gardella E, Weckhuysen S. Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood. Neurology 2022, 99(3), e221-e233.
  • Elwan M, Fowkes R, Lewis-Smith D, Winder A, Baker MR, Thomas RH. Late-onset cluster seizures and intellectual disability associated with a novel truncation variant in SMC1A. Epileptic Disorders 2022, 19, 100556.
  • Alam AM, Chen JPK, Wood GK, Facer B, Bhojak M, Das K, Defres S, Marson A, Granerod J, Brown D, Thomas RH, Keller SS, Solomon T, Michael BD. Increased volume of cerebral oedema is associated with risk of acute seizure activity and adverse neurological outcomes in encephalitis – regional and volumetric analysis in a multi-centre cohort. BMC Neurology 2022, 22(1), 412.
  • Ng YS, Lax NZ, Blain AP, Erskine D, Baker MR, Polvikoski T, Thomas RH, Morris CM, Lai M, Whittaker RG, Gebbels A, Winder A, Hall J, Feeney C, Farrugia ME, Hirst C, Roberts M, Lawthom C, Chrysostomou A, Murphy K, Baird T, Maddison P, Duncan C, Poulton J, Nesbitt V, Hanna MG, Pitceathly RDS, Taylor RW, Blakely EL, Schaefer AM, Turnbull DM, McFarland R, Gorman GS. Forecasting stroke-like episodes and outcomes in mitochondrial disease. Brain 2022, 145(2), 542-554.
  • Panagiotopoulou M, Papasavvas CA, Schroeder GM, Thomas RH, Taylor PN, Wang Y. Fluctuations in EEG band power at subject-specific timescales over minutes to days explain changes in seizure evolutions. Human Brain Mapping 2022, 43(8), 2460-2477.
  • Pizzamiglio C, Machado PM, Thomas RH, Gorman GS, McFarland R, Hanna MG, Pitceathly RDS. COVID-19-Related Outcomes in Primary Mitochondrial Diseases: An International Study. Neurology 2022, 98(14), 576-582.
  • Lewis-Smith D, Parthasarathy S, Xian J, Kaufman MC, Ganesan S, Galer PD, Thomas RH, Helbig I. Computational analysis of neurodevelopmental phenotypes: Harmonization empowers clinical discovery. Human Mutation 2022, 43(11), 1642-1658.
  • Lewis-Smith D, Jaiser S, Thomas RH. Autoimmune musicogenic bilateral temporal lobe epilepsy. Epileptic Disorders 2022. In Preparation.
  • Lewis-Smith D, Jaiser SR, Thomas RH. Autoimmune musicogenic bilateral temporal lobe epilepsy. Epileptic Disorders 2022, 24(5), 961-964.
  • Wood GK, Babar R, Ellul MA, Thomas RH, Van Den Tooren H, Easton A, Tharmaratnam K, Burnside G, Alam AM, Castell H, Boardman S, Collie C, Facer B, Dunai C, Defres S, Granerod J, Brown DWG, Vincent A, Marson AG, Irani SR, Solomon T, Michael BD. Acute seizure risk in patients with encephalitis: development and validation of clinical prediction models from two independent prospective multicentre cohorts. BMJ Neurology Open 2022, 4(2), e000323.
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  • Fowkes R, Elwan M, Akay E, Mitchell CJ, Thomas RH, Lewis-Smith D. A review of the clinical spectrum of BRAT1 disorders with addition of a developmental and epileptic encephalopathy with survival to adulthood. Epilepsy & Behavior Reports 2022, 19, 100549.
  • Shakeshaft A, Panjwani N, McDowall R, Crudgington H, Peña Ceballos J, Andrade DM, Beier CP, Fong CY, Gesche J, Greenberg DA, Hamandi K, Koht J, Lim KS, Orsini A, Rees MI, Rubboli G, Selmer KK, Smith AB, Striano P, Syvertsen M, Talvik I, Thomas RH, Zarubova J, Richardson MP, Strug LJ, Pal DK, BIOJUME Consortium. Trait impulsivity in Juvenile Myoclonic Epilepsy. Annals of Clinical and Translational Neurology Ann Clin Transl Neuro 2021, 8(1), 138-152.
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  • Ross Russell AL, Hardwick M, Jeyanatham A, Thomas N, Thomas RH, et al. Spectrum, Risk Factors, and Outcomes of Neurological and Psychiatric Complications of COVID-19: A UK-Wide Cross-Sectional Surveillance Study. Brain Communications 2021, 3(3), fcab168.
  • Craig DP, Choi YY, Hughes E, Osland K, Hanna J, Kerr MP, Thomas RH. Paediatric sudden unexpected death in epilepsy: A parental report cohort. Acta Neurologica Scandinavica 2021, 143(5), 509-513.
  • Ray STJ, Abdel-Mannan O, Sa M, Fuller C, Wood GK, Pysden K, Yoong M, McCullagh H, Scott D, McMahon M, Thomas N, Taylor M, Illingworth M, McCrea N, Davies V, Whitehouse W, Zuberi S, Guthrie K, Wassmer E, Shah N, Baker MR, Tiwary S, Tan HJ, Varma U, Ram D, Avula S, Enright N, Hassell J, Ross Russell AL, Kumar R, Mulholland RE, Pett S, Galea I, Thomas RH, Lim M, Hacohen Y, Solomon T, Griffiths MJ, Michael BD, Kneen R, Breen G, Castell H, Collie C, George L, Hartmann M, Henrion M, Kinali M, Petropoulos C, Ramdas S, Vlachou V, Vollmer B, Facer B, Dunai C. Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study. The Lancet Child and Adolescent Health 2021, 5(9), 631-641.
  • Lewis-Smith D, Galer PD, Balagura G, Kearney H, Ganesan S, Cosico M, O'Brien M, Vaidiswaran P, Krause R, Ellis CA, Thomas RH, Robinson PN, Helbig I. Modeling seizures in the Human Phenotype Ontology according to contemporary ILAE concepts makes big phenotypic data tractable. Epilepsia 2021, 62(6), 1293-1305.
  • Crow YJ, Marshall H, Rice GI, Seabra L, Jenkinson EM, Baranano K, Battini R, Berger A, Blair E, Blauwblomme T, Bolduc F, Boddaert N, Buckard J, Burnett H, Calvert S, Caumes R, Ng AC-H, Chiang D, Clifford DB, Cordelli DM, de Burca A, Demic N, Desguerre I, De Waele L, Di Fonzo A, Dunham SR, Dyack S, Elmslie F, Ferrand M, Fisher G, Karimiani EG, Ghoumid J, Gibbon F, Goel H, Hilmarsen HT, Hughes I, Jacob A, Jones EA, Kumar R, Leventer RJ, MacDonald S, Maroofian R, Mehta SG, Metz I, Monfrini E, Neumann D, Noetzel M, O'Driscoll M, Ounap K, Panzer A, Parikh S, Prabhakar P, Ramond F, Sandford R, Saneto R, Soh C, Stutterd CA, Subramanian GM, Talbot K, Thomas RH, Toro C, Touraine R, Wakeling E, Wassmer E, Whitney A, Livingston JH, O'Keefe RT, Badrock AP. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. American Journal of Medical Genetics, Part A 2021, 185(1), 15-25.
  • Glavin D, Kelly D, Wood GK, McCausland BM, Ellul MA, Varatharaj A, Galea I, Thomas RH, Michael BD, Gallen B. COVID-19 Encephalitis with SARS-CoV-2 Detected in Cerebrospinal Fluid Presenting as a Stroke Mimic. Journal of Stroke and Cerebrovascular Diseases 2021, 30(9), 105915.
  • Butler M, Tamborska A, Wood GK, Ellul M, Thomas R, Galea I, Pett S, Singh B, Solomon T, Pollak TA, Michael BD, Nicholson TR. Considerations for causality assessment of neurological and neuropsychiatric complications of SARS-CoV-2 vaccines: from cerebral venous sinus thrombosis to functional neurological disorder. Journal of Neurology, Neurosurgery & Psychology 2021, 92(11), 1144-1151.
  • Sultan M, Brown EM, Thomas RH. Clinicians embracing social media: Potential and pitfalls. Epilepsy and Behavior 2021, 115, 106462.
  • Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scudieri P, Baldassari S, Salpietro VD, Novelli G, De Luca C, von Stülpnagel C, Kluger F, Kluger GJ, Wohlrab GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. Clinical and Genetic Features in Patients With Reflex Bathing Epilepsy. Neurology 2021, 97(6), e577-e586.
  • Accogli A, Wiegand G, Scala M, Cerminara C, Iacomino M, Riva A, Carlini B, Camerota L, Belcastro V, Prontera P, Fernández-Jaén A, Bebek N, Scuderi P, Baldassari S, Salpietro VD, Novelli A, De Luca C, von Stulpnagel C, Kluger F, Kluger GJ, Wohlrag GC, Ramantani G, Lewis-Smith D, Thomas RH, Lai M, Verrotti A, Striano S, Depienne C, Minetti C, Benfenati F, Brancati F, Zara F, Striano P. Clinical and genetic features in patients with reflex bathing epilepsy. Neurology 2021, 97(6), e577-e586.
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  • Thomas RH, Craig DP, Leach JP. The view of the clinician and the scientist on the family experience of sudden epilepsy deaths. Epilepsy and Behavior 2020, 103(Part B), 106679.
  • Watkins L, O'Dwyer M, Oak K, Lawthom C, Maguire M, Thomas R, Shankar R. The evidence for switching dibenzazepines in people with epilepsy. Acta Neurologica Scandinavica 2020, 142(2), 121-130.
  • Ellis CA, Berkovic SF, Epstein MP, Ottman R, for the Epi4K Consortium. The "maternal effect" on epilepsy risk: analysis of familial epilepsies and reassessment of prior evidence. Annals of Neurology 2020, 87(1), 132-138.
  • Galer PD, Ganesan S, Lewis-Smith D, McKeown SE, Pendziwiat M, Helbig KL, Ellis CA, Rademacher A, Smith L, Poduri A, Seiffert S, von Spiczak S, Muhle H, van Baalen A, NCEE Study Group, EPGP Investigators, EuroEpinomics Consortium, Genomics Research and Innovation Network, Thomas RH, Krause R, Weber Y, Helbig I. Semantic similarity analysis reveals robust gene-disease relationships in developmental and epileptic encephalopathies. American Journal of Human Genetics 2020, 107(4), 683-697.
  • Sultan M, Thomas RH. Self-driving cars: a qualitative study into the opportunities, challenges and perceived acceptability for people with epilepsy. Journal of Neurology, Neurosurgery and Psychiatry 2020, 91(7), 781-782.
  • Varatharaj A, Thomas N, Ellul MA, Davies NWS, Pollak TA, Tenorio EL, Sultan M, Easton A, Breen G, Zandi M, Coles JP, Manji H, Al-Shahi Salman R, Menon DK, Nicholson TR, Benjamin LA, Carson A, Smith C, Turner MR, Solomon T, Kneen R, Pett SL, Galea I, Thomas RH, Michael BD, Allen C, Archibald N, Arkell J, Arthur-Farraj P, Baker M, Ball H, Bradley-Barker V, Brown Z, Bruno S, Carey L, Carswell C, Chakrabarti A, Choulerton J, Daher M, Davies R, Di Marco Barros R, Dima S, Dunley R, Dutta D, Ellis R, Everitt A, Fady J, Fearon P, Fisniku L, Gbinigie I, Gemski A, Gillies E, Gkrania-Klotsas E, Grigg J, Hamdalla H, Hubbett J, Hunter N, Huys A-C, Ihmoda I, Ispoglou S, Jha A, Joussi R, Kalladka D, Khalifeh H, Kooij S, Kumar G, Kyaw S, Li L, Littleton E, Macleod M, Macleod MJ, Madigan B, Mahadasa V, Manoharan M, Marigold R, Marks I, Matthews P, Mccormick M, Mcinnes C, Metastasio A, Milburn-McNulty P, Mitchell C, Mitchell D, Morgans C, Morris H, Morrow J, Mubarak Mohamed A, Mulvenna P, Murphy L, Namushi R, Newman E, Phillips W, Pinto A, Price DA, Proschel H, Quinn T, Ramsey D, Roffe C, Ross Russell A, Samarasekera N, Sawcer S, Sayed W, Sekaran L, Serra-Mestres J, Snowdon V, Strike G, Sun J, Tang C, Vrana M, Wade R, Wharton C, Wiblin L, Boubriak I, Herman K, Plant G. Neurological and neuropsychiatric complications of COVID-19 in 153 patients: a UK-wide surveillance study. The Lancet Psychiatry 2020, 7(10), 875-882.
  • Lariviere S, Rodriguez-Cruces R, Royer J, Caligiuri ME, Gambardella A, Concha L, Keller SS, Cendes F, Yasuda C, Bonilha L, Gleichgerrcht E, Focke NK, Domin M, von Podewills F, Langner S, Rummel C, Wiest R, Martin P, Kotikalapudi R, O'Brien TJ, Sinclair B, Vivash L, Desmond PM, Alhusaini S, Doherty CP, Cavalleri GL, Delanty N, Kalviainen R, Jackson GD, Kowalczyk M, Mascalchi M, Semmelroch M, Thomas RH, Soltanian-Zadeh H, Davoodi-Bojd E, Zhang J, Lenge M, Guerrini R, Bartolini E, Hamandi K, Foley S, Weber B, Depondt C, Absil J, Carr SJA, Abela E, Richardson MP, Devinsky O, Severino M, Striano P, Tortora D, Hatton SN, Vos SB, Duncan JS, Whelan CD, Thompson PM, Sisodiya SM, Bernasconi A, Labate A, McDonald CR, Bernasconi N, Bernhardt BC. Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study. Science Advances 2020, 6(47), eabc6457.
  • Ellul M, Varatharaj A, Nicholson T, Pollack T, Zandi MS, Manji H, Solomon T, Carson A, Turner M, Kneen R, Galea I, Pett S, Thomas RH, Michael BD. Defining causality in COVID-19 and neurological disorders. Journal of Neurology, Neurosurgery and Psychiatry 2020, 91(8), 811-812.
  • Wildman J, Baker MR, Price A, Tiwari S, Kumar H, Rice GI, Crow Y, Thomas RH. Clinical Reasoning: A 25-year old woman with recurrent episodes of collapse and loss of consciousness. Neurology 2020, 94(22), 994-999.
  • Craig DP, Mitchell TN, Thomas RH. A tiered strategy for investigating status epilepticus. Seizure 2020, 75, 165-173.
  • Epi4K Consortium. Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies. Epilepsia 2019, 60(11), 2194-2203.
  • Lad M, Thomas RH, Anderson K, Griffiths TD. Niemann-Pick type C: Contemporary diagnosis and treatment of a classical disorder. Practical Neurology 2019, 19(5), 420-423.
  • Ellis CA, Churilov L, Epstein MP, Xie SX, Bellows ST, Ottman R, Berkovic SF, for the Epi4K Consortium. Epilepsy in families: Age at onset is a familial trait, independent of syndrome. Annals of Neurology 2019, 86(1), 91-98.
  • Eaton C, Thomas RH, Hamandi K, Payne GC, Kerr MP, Linden DEJ, Owen MJ, Cunningham A, Bartsch U, Struik SS, van den Bree MBM. Epilepsy and seizures in young people with 22q11.2 deletion syndrome: prevalence and links with other neurodevelopmental disorders. Epilepsia 2019, 60(5), 818-829.
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  • Whelan CD, Altmann A, Botía JA, Jahanshad N, Hibar DP, Absil J, Alhusaini S, Alvim MKM, Auvinen P, Bartolini E, Bergo FPG, Bernardes T, Blackmon K, Braga B, Caligiuri ME, Calvo A, Carr SJ, Chen J, Chen S, Cherubini A, David P, Domin M, Foley S, França W, Haaker G, Isaev D, Keller SS, Kotikalapudi R, Kowalczyk MA, Kuzniecky R, Langner S, Lenge M, Leyden KM, Liu M, Loi RQ, Martin P, Mascalchi M, Morita ME, Pariente JC, Rodríguez-Cruces P, Rummel C, Saavalainen T, Semmelroch MK, Severino M, Thomas RH, Tondelli M, Tortora D, Vaudano AE, Vivash L, von Podewils F, Wagner J, Weber B, Yao Y, Yasuda CL, Zhang G, UK Brain Expression Consortium, Bargalló N, Bender B, Bernasconi N, Bernasconi A, Bernhardt BC, Blümcke I, Carlson C, Cavalleri GL, Cendes F, Concha L, Delanty N, Depondt C, Devinsky O, Doherty CP, Focke NK, Gambardella A, Guerrini R, Hamandi K, Jackson GD, Kälviäinen R, Kochunov P, Kwan P, Labate A, McDonald CR, Meletti S, O'Brien TJ, Ourselin S, Richardson MP, Striano P, Thesen T, Zhang J, Wiest R, Vezzani A, Ryten M, Thompson PM, Sisodiya SM, for the ENIGMA-Epilepsy Working Group. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain 2018, 141(2), 391-408.
  • Zagaglia S, Selch C, Nisevic JR, Mei D, Michalak Z, Hernandez L, Krithika S, Vezyroglou K, Varadkar SM, Pepler A, Biskup S, Leão M, Gärter J, Merkenschlager A, Jaksch M, Møller RS, Gardella E, Kristiansen BS, Hansen LK, Vari MS, Helbig KL, Desai S, SmithHicks CL, HinoFukuyo N, Talvik T, Laugesaar R, Ilves P, Õunap K, Körber I, Hartlieb T, Kudernatsch M, Winkler P, Schimmel M, Hasse A, Knuf M, Heinemeyer J, Makowski C, Ghedia S, Subramanian GM, Striano P, Thomas RH, Micallef C, Thom M, Werring DJ, Kluger GJ, Cross JH, Guerrini R, Balestrini S, Sisodiya SM. Neurologic phenotypes associated with COL4A1/2 mutations: Expanding the spectrum of disease. Neurology 2018, 91(22), e2078-e2088.
  • Lacey AS, Pickrell WO, Thomas RH, Kerr MP, White C, Rees MI. Educational Attainment of Children Born to Mothers with Epilepsy. Journal of Neurology, Neurosurgery and Psychiatry 2018, 89, 736-740.
  • Kopczynska M, Zelek WM, Vespa S, Touchard S, Wardle M, Loveless S, Thomas RH, Hamandi K, Morgan BP. Complement system biomarkers in epilepsy. Seizure 2018, 60, 1-7.
  • Thomas RH, Cunningham MO. Cannabis and epilepsy. Practical Neurology 2018, 18(6), 465-471.
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  • Abou-Khalil B, Afawi Z, Allen AS, Bautista JF, Bellows ST, Berkovic SF, Bluvstein J, Burgess R, Cascino G, Cops EJ, Cossette P, Cristofaro S, Crompton DE, Delanty N, Devinsky O, Dlugos D, Epstein MP, Fountain NB, Freyer C, Garry SI, Geller EB, Glauser T, Glynn S, Goldberg-Stern H, Goldstein DB, Gravel M, Haas K, Haut S, Heinzen EL, Kirsch HE, Kivity S, Knowlton R, Korczyn AD, Kossoff E, Kuzniecky R, Loeb R, Lowenstein DH, Marson AG, McCormack M, McKenna K, Mefford HC, Motika P, Mullen SA, O'Brien TJ, Ottman R, Paolicchi J, Parent JM, Paterson S, Petrovski S, Pickrell WO, Poduri A, Rees MI, Sadleir LG, Scheffer IE, Shih J, Singh R, Sirven J, Smith M, Smith PEM, Thio LL, Thomas RH, Venkat A, Vining E, Von Allmen G, Weisenberg J, Widdess-Walsh P, Winawer MR. Phenotypic analysis of 303 multiplex families with common epilepsies. Brain 2017, 140(8), 2144-2156.
  • Tang S, Hughes E, Lascelles K, Simpson MA, Pal DK, Marini C, Guerrini R, Neubauer B, Korff CM, Craiu D, Pal D, Caglayan H, Helbig I, De Jonghe P, Thomas R, Moller RS, Sisodiya S, von Spiczak S, Weckhuysen S, Talvik T. New SMARCA2 Mutation in a Patient with Nicolaides–Baraitser Syndrome and Myoclonic Astatic Epilepsy. American Journal of Medical Genetics, Part A 2017, 173(1), 195-199.
  • Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies. American Journal of Human Genetics 2017, 101(5), 664-685.
  • Abdul-Rahim MI, Thomas RH. Gamification of Medication Adherence in Epilepsy. Seizure 2017, 52, 11-14.
  • Thomas RH, Robertson NP. What can rare variant genetics tell us about cognition and intellectual difficulties?. Journal of Neurology 2016, 263(12), 2565-2566.
  • Thomas RH, Robertson NP. The consequences of valproate exposure in utero. Journal of Neurology 2016, 263(9), 1887-1889.
  • Fry AE, Rees E, Thompson R, Mantripragada K, Blake P, Jones G, Morgan S, Jose S, Mugalaasi H, Archer H, McCann E, Clarke A, Taylor C, Davies S, Gibbon F, Te Water Naude J, Hartley L, Thomas G, White C, Natarajan J, Thomas RH, Drew C, Chung S-K, Rees MI, Holmans P, Owen MJ, Kirov G, Pilz DT, Kerr MP. Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy. BMC Medical Genetics 2016, 17(1), 1-9.
  • Strehlow V, Swinkels MEM, Thomas RH, Rapps N, Syrbe S, Dorn T, Lemke JR. Generalized Epilepsy and Myoclonic Seizures in 22q11.2 Deletion Syndrome. Molecular Syndromology 2016, 7(4), 239-246.
  • Kendall KM, Rees E, Escott-Price V, Einon M, Thomas R, Hewitt J, O'Donovan MC, Owen MJ, Walters JTR, Kirov G. Cognitive Performance Among Carriers of Pathogenic Copy Number Variants: Analysis of 152,000 UK Biobank Subjects. Biological Psychiatry 2016, 82(2), 103-110.
  • Williams CJ, Thomas RH, Pickersgill TP, Lyons M, Lowe G, Stiff RE, Moore C, Jones R, Howe R, Brunt H, Ashman A, Mason BW. Cluster of atypical adult Guillain-Barré syndrome temporally associated with neurological illness due to EV-D68 in children, South Wales, United Kingdom, October 2015 to January 2016. Eurosurveillance 2016, 21(4), 26-32.
  • Thomas RH, Robertson NP. Testing new treatments for paediatric epilepsies. Journal of Neurology 2015, 262(8), 1996-1998.
  • Thomas RH. Hyperekplexia: overexcitable and underdiagnosed. Developmental Medicine and Child Neurology 2015, 57(4), 313.
  • Caeyenberghs K, Powell HWR, Thomas RH, Brindley L, Church C, Evans J, Muthukumaraswamy SD, Jones DK, Hamandi K. Hyperconnectivity in juvenile myoclonic epilepsy: A network analysis. NeuroImage: Clinical 2015, 7, 98-104.
  • Leu C, Balestrini S, Maher B, Hernandez-Hernandez L, Gormley P, Hamalainen E, Heggeli K, Schoeler N, Novy J, Willis J, Plagnol V, Ellis R, Reavey E, O'Regan M, Pickrell WO, Thomas RH, Chung S-K, Delanty N, McMahon JM, Malone S, Sadleir LG, Berkovic SF, Nashef L, Zuberi SM, Rees MI, Cavalleri GL, Sander JW, Hughes E, Helen Cross J, Scheffer IE, Palotie A, Sisodiya SM. Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy. EBioMedicine 2015, 2(9), 1063-1070.
  • Thomas RH, Drew CJG, Wood SE, Hammond CL, Chung SK, Rees MI. Ethnicity can predict GLRA1 genotypes in hyperekplexia. Journal of Neurology, Neurosurgery and Psychiatry 2015, 86(3), 341-343.
  • Pickrell WO, Lacey AS, Bodger OG, Demmler JC, Thomas RH, Lyons RA, Smith PEM, Rees MI, Kerr MP. Epilepsy and deprivation, a data linkage study. Epilepsia 2015, 56(4), 585-591.
  • Thomas RH, Zhang LM, Carvill GL, Archer JS, Heavin SB, Mandelstam SA, Craiu D, Berkovic SF, Gill DS, Mefford HC, Scheffer IE. CHD₂ myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology 2015, 84(9), 951-958.
  • Pickrell WO, Lacey AS, Thomas RH, Lyons RA, Smith PEM, Rees MI. Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010. Seizure 2014, 23(1), 77-80.
  • Thomas RH, Robertson NP. Novel auto-antibody syndromes. Journal of Neurology 2014, 261(10), 2043-2045.
  • Walsh J, Thomas RH, Church C, Rees MI, Marson AG, Baker GA. Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy. Epilepsy and Behavior 2014, 35, 72-77.
  • Steer S, Pickrell WO, Kerr MP, Thomas RH. Epilepsy prevalence and socioeconomic deprivation in England. Epilepsia 2014, 55(10), 1634-1641.
  • Johnston AJ, Kang J-Q, Shen W, Pickrell WO, Cushion TD, Davies JS, Baer K, Mullins JGL, Hammond CL, Chung S-K, Thomas RH, White C, Smith PEM, Macdonald RL, Rees MI. A Novel GABRG2 mutation, p.R1367*, in a family with GEFS+ and extended phenotypes. Neurobiology of Disease 2014, 64, 131-141.
  • Thomas RH, Walsh J, Church C, Marson AG, Baker GA, Rees MI. A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy. Epilepsy and Behavior 2014, 36, 124-129.
  • Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G, Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M, Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. Journal of Biological Chemistry 2013, 288(47), 33745-33759.

• Book Chapter

  • Lewis-Smith D, Craig DP, Thomas NJP, Hamandi K, Thomas RH. Molecular genetic management of epilepsy. In: Clinical Molecular Medicine: Principles and Practice. Academic Press, 2020, pp.289-308.

• Conference Proceedings (inc. Abstracts)

  • Bush KJ, Pickrell WO, Cullen E, Mills S, Thomas RH, Ramsay SE. Assessing the extent and distribution of socioeconomic inequalities in Epilepsy, in the United Kingdom; a systematic evidence review. In: ILAE British Branch Annual Scientific Meeting. 2023, Gateshead.
  • Lewis-Smith D, Galer PD, Ganesan S, Krause R, Thomas RH, Helbig I, EpiCollaborative a. Ultra-rare Genetic Variants Influence Clinical Features of the Epilepsies. In: American Epilepsy Society Annual Meeting. 2021, Virtual: American Epilepsy Society.

• Editorials

  • Willison AG, Thomas RH. The neurodevelopmental spectrum seen with CHD2 variants. Pediatric Investigation 2022, 6(2), 147-148.
  • Bergin P, Langan Y, Beghi E, Donner E, Cock H, D'Souza W, Thomas R, Scragg R. Invitation to participate in a prospective case–control study of sudden unexpected death in epilepsy. Epilepsia 2021, 62(6), 1280-1281.
  • Thomas RH, Thomas NJP. Genetic chameleons: Remember the relapsing disorders. Practical Neurology 2019, 19, 282-283.
  • Reuber M, Helmstaedter C, Liao W, Loddenkemper T, Thomas R, Kalviainen R, Mann M. Editorial: The future of medicine will be dark without international collaboration. Seizure 2016, 41, 42.
  • Smith P, Thomas R. Etiology of epilepsy. Seminars in Neurology 2015, 35(3), 191-192.

• Letters

  • Lewis-Smith D, Thomas RH. The prevalence of genetically diagnosable epilepsies in young adulthood: How many should we be looking for?. Epilepsia 2020, 61(9), 2053-2054.
  • Lewis-Smith D, Ellis CA, Helbig I, Thomas RH. Early-onset genetic epilepsies reaching adult clinics. Brain 2020, 143(3), e19.
  • Varatharaj A, Pollak TA, Nicholson TR, Coles JP, Benjamin LA, Carson A, Thomas RH, Michael BD, Davies NW, Breen G, Zandi M, Ellul MA, Thomas N, Tenorio EL, Sultan M, Easton A, Smith C, Kneen R, Turner MR, Manji H, Solomon T, Menon DK, Pett SL, Galea I. Characterising neuropsychiatric disorders in patients with COVID-19 – Authors' reply. The Lancet Psychiatry 2020, 7(11), 934-935.
  • Lerche H, Berkovic SF, Lowenstein DH, EuroEPINOMICS-CoGIE Consortium, EpiPGX Consortium, Epi4K Consortium/Epilepsy Phenome/Genome Project. Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy. New England Journal of Medicine 2019, 380, e24.
  • Hughes EG, Thomas RH. Epilepsy treatment priorities: answering the questions that matter. Journal of Neurology, Neurosurgery and Psychiatry 2017, 88(11), 999-1001.

• Notes

  • Norton AC, Smeaton M, Twohig-Bennett C, Thomas RH. What the Top Ten epilepsy research priorities mean for the UK research ecosystem. eBioMedicine 2024, 100, 104919.
  • Alam AM, Chen JPK, Wood GK, Facer B, Bhojak M, Das K, Defres S, Marson A, Granerod J, Brown D, Thomas RH, Keller SS, Solomon T, Michael BD. Correction: Increased volume of cerebral oedema is associated with risk of acute seizure activity and adverse neurological outcomes in encephalitis – regional and volumetric analysis in a multi-centre cohort. BMC Neurology 2022, 22(1), 451.

• Reviews

  • Clifford HJ, Paranathala MP, Wang Y, Thomas RH, da SilvaCosta T, Duncan JS, Taylor PN. Vagus nerve stimulation for epilepsy: A narrative review of factors predictive of response. Epilepsia 2024, 65(12), 3441-3456.
  • Steinhoff BJ, Ben-Menachem E, Klein P, Peltola J, Schmitz B, Thomas RH, Villanueva V. Therapeutic strategies during cenobamate treatment initiation: Delphi panel recommendations. Therapeutic Advances in Neurological Disorders 2024, 17, 1-10.
  • Thomas RH. Practical approach to anti seizure medications, an update. Clinical Medicine 2024, 24(2), 100040.
  • Rubboli G, Beier CP, Selmer KK, Syvertsen M, Shakeshaft A, Collingwood A, Hall A, Andrade DM, Fong CY, Greenberg DA, Hamandi K, Lim KS, Ng CC, Orsini A, Strug L, Panjwani N, Lin F, Andrade D, Zarubova J, Zarubova J, Sobiskova Z, Cechovaz, Pracoviste, Kajsova M, Rubboli G, Moller RS, Gardella E, Beier CP, Gesche J, Gesche J, Miranda M, Talvik I, Striano P, Orsini A, Fong CY, Ng CC, Lim KS, Selmer KK, Syvertsen M, Bala P, Kitching A, Irwin K, Walding L, Adams L, Jegathasan U, Swingler R, Wane R, Aram J, Mullan D, Ramsay R, Richmond V, Sargent M, Frattaroli P, Taylor M, Home M, Uka S, Kilroy S, Nortcliffe T, Salim H, Holroyd K, Hamandi K, McQueen A, McAleer D, Jayachandran D, Egginton D, MacDonald B, Chang M, Deekollu D, Gaurav A, Hamilton C, Takon JNI, Cotta J, Moran N, Bland J, Belderbos R, Collier H, Henry J, Milner M, White S, Koutroumanidis M, Stern W, Richardson MP, Quirk J, Ceballos JP, Anastasia, Papathanasiou, Stavropoulos I, Lozsadi D, Swain A, Quamina C, Crooks J, Majeed T, Raj S, Patel S, Young M, Maguire M, Ray M, Peacey C, Makawa L, Chhibda A, Sacre E, Begum S, O'Malley M, Yeung L, Holliday C, Woodhead L, Rhodes K, Thomas R, Ellawela S, Glenton J, Calder V, Davis J, McAlinden P, Francis S, Robson L, Lanyon K, MacKay G, Stephen E, Thow C, Connon M, Kirkpatrick M, MacFarlane S, MacLeod A, Rice D, Kumar S, Campbell C, Collins V, Whitehouse W, Giavasi C, Petrova B, Brown T, Picton C, O'Donoghue M, West C, Navarra H, Slaght SJ, Edwards C, Gribbin A, Nelson L, Warriner S, Angus-Leppan H, Ehiorobo L, Camara B, Samakomva T, Mohanraj R, Parker V, Pandey R, Charles L, Cotter C, Desurkar A, Hyde A, Harrison R, Reuber M, Clegg R, Sidebottom J, Recto M, Easton P, Waite C, Howell A, Smith J, Clegg R, Mariguddi S, Haslam Z, Galizia E, Cock H, Mencias M, Truscott S, Daly D, Mhandu H, Said N, Rees M, Chung S-K, Pickrell O, Fonferko-Shadrach B, Baker M, Whiting A, Swain L, O'Brien K, Scott F, Ghaus N, Castle G, Bartholomew J, Needle A, Ball J, Clough A, Sastry S, Agrawal CBA, Dickerson D, Duran A, Khan M, Thrasyvoulou L, Irvine E, Tittensor S, Daglish J, Kumar S, Backhouse C, Mewies C, Aram J, Sudarsan N, Sudarsan N, Mullan D, Ramsay R, Richmond V, Skinner D, Sargent M, Bharat R, Sharman S-J, Saraswatula A, Cockerill H, Greenberg DA, Striano P, Thomas RH, Richardson MP, Strug LJ, Pal DK. Variation in prognosis and treatment outcome in juvenile myoclonic epilepsy: a Biology of Juvenile Myoclonic Epilepsy Consortium proposal for a practical definition and stratified medicine classifications. Brain Communications 2023, 5(3).
  • Sisodiya SM, Whelan CD, Hatton SN, Huynh K, Altmann A, Ryten M, Vezzani A, Caligiuri ME, Labate A, Gambardella A, Ives-Deliperi V, Meletti S, Munsell BC, Bonilha L, Tondelli M, Rebsamen M, Rummel C, Vaudano AE, Wiest R, Balachandra AR, Bargallo N, Bartolini E, Bernasconi A, Bernasconi N, Bernhardt B, Caldairou B, Carr SJA, Cavalleri GL, Cendes F, Concha L, Desmond PM, Domin M, Duncan JS, Focke NK, Guerrini R, Hamandi K, Jackson GD, Jahanshad N, Kalviainen R, Keller SS, Kochunov P, Kowalczyk MA, Kreilkamp BAK, Kwan P, Lariviere S, Lenge M, Lopez SM, Martin P, Mascalchi M, Moreira JCV, Morita-Sherman ME, Pardoe HR, Pariente JC, Raviteja K, Rocha CS, Rodriguez-Cruces R, Seeck M, Semmelroch MKHG, Sinclair B, Soltanian-Zadeh H, Stein DJ, Striano P, Taylor PN, Thomas RH, Thomopoulos SI, Velakoulis D, Vivash L, Weber B, Yasuda CL, Zhang J, Thompson PM, McDonald CR. The ENIGMA-Epilepsy working group: Mapping disease from large data sets. Human Brain Mapping 2022, 43(1), 113-128.
  • Toledo M, Mostacci B, Bosak M, Jedrzejzak J, Thomas RH, Salas-Puig J, Biraben A, Schmitz B. Expert opinion: use of valproate in girls and women of childbearing potential with epilepsy: recommendations and alternatives based on a review of the literature and clinical experience—a European perspective. Journal of Neurology 2021, 268, 2735-2748.
  • Watson CJ, Thomas RH, Solomon T, Michael BD, Nicholson TR, Pollak TA. COVID-19 and psychosis risk: Real or delusional concern?. Neuroscience Letters 2021, 741, 135491.
  • Lim A, Thomas RH. The mitochondrial epilepsies. European Journal of Paediatric Neurology 2020, 24, 47-52.
  • Shankar R, Perera B, Thomas RH. Epilepsy, an orphan disorder within the neurodevelopmental family. Journal of Neurology, Neurosurgery and Psychiatry 2020, 91(12), 1245-1247.
  • Thomas RH, Osland K. Learnings from deaths – the Epilepsy Deaths Register. Epilepsy and Behavior 2019, 103, ePub ahead of print.
  • Balint B, Thomas R. Hereditary Hyperekplexia Overview. GeneReviews® 2019.
  • Jones LA, Thomas RH. Sudden death in epilepsy: Insights from the last 25 years. Seizure 2017, 44, 232-236.
  • Handley JD, Thomas RH, McKenna P, Hughes TAT. On the road again: assessing driving ability in patients with neurological conditions. Practical Neurology 2017, 17(3), 203-206.
  • Knott S, Forty L, Craddock N, Thomas RH. Epilepsy and bipolar disorder. Epilepsy and Behavior 2015, 52(Part A), 267-274.
  • Thomas RH, Berkovic SF. The hidden genetics of epilepsy - a clinically important new paradigm. Nature Reviews Neurology 2014, 10(5), 283-292.
  • Koepp MJ, Thomas RH, Wandschneider B, Berkovic SF, Schmidt D. Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy. Expert Review of Neurotherapeutics 2014, 14(7), 819-831.