Dr Rhys Thomas
Clinical Int Fellow/Honorary Consultant
- Email: firstname.lastname@example.org
- Personal Website: http://scholar.google.co.uk/citations?user=Hd9NNoEAAAAJ&hl=en&oi=sra
Rhys joined Newcastle University from Cardiff University in August 2017. He is an Honorary Consultant in Epilepsy at the Royal Victoria Infirmary. His research interests include the causes and consequences of epilepsy - primarily the genetic causes of the epilepsies. Understanding the genetic contributions to epilepsy have recently led to a number of medications being repurposed to help control seizures, so called 'precision medicine'.
Rhys is currently the 2017 Royal College of Physicians Linacre lecturer. He spoke about the risks and benefits of Sodium Valproate for women of child-bearing age.
He is an Associate Editor of Practical Neurology, Web Editor of Seizure and is on the editorial board of Clinical Medicine.
Rhys is interested in the interplay between common and rare genetic variants and how these contribute to produce common and rare epilepsies.
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 retains close links with Professor Mark Rees and Dr Owen Pickrell at Swansea University using data-linking to look at epilepsy comorbidities.
He is a member of -
A collaboration of European Epilepsy researchers. Rhys is the lead for epilepsy associated with CHD2 variants (Thomas et al. Neurology 2015)
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
Using indices of ictogenicty to stratify a genome wide association study of people with juvenile myoclonic epilepsy
A mega-analysis of imaging from people with epilepsy
- Hughes EG, Thomas RH. Epilepsy treatment priorities: answering the questions that matter. Journal of Neurology, Neurosurgery and Psychiatry 2017, e-pub ahead of print.
- Abdul-Rahim MI, Thomas RH. Gamification of Medication Adherence in Epilepsy. Seizure 2017, 52, 11-14.
- 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.
- 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.
- 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.
- Jones LA, Thomas RH. Sudden death in epilepsy: Insights from the last 25 years. Seizure 2017, 44, 232-236.
- Allen AS, Bellows ST, Berkovic SF, Bridgers J, Burgess R, Cavalleri G, Chung S-K, Cossette P, Delanty N, Dlugos D, Epstein MP, Freyer C, Goldstein DB, Heinzen EL, Hildebrand MS, Johnson MR, Kuzniecky R, Lowenstein DH, Marson AG, Mayeux R, Mebane C, Mefford HC, O'Brien TJ, Ottman R, Petrou S, Petrovski S, Pickrell WO, Radtke RA, Rees MI, Regan BM, Ren Z, Scheffer IE, Sills GJ, Thomas RH, Wang Q, Abou-Khalil B, Alldredge BK, Amrom D, Andermann E, Andermann F, Bautista JF, Bluvstein J, Boro A, Cascino GD, Consalvo D, Crumrine P, Devinsky O, Fiol M, Fountain NB, French J, Friedman D, Geller EB, Glauser T, Glynn S, Haas K, Haut SR, Hayward J, Helmers SL, Joshi S, Kanner A, Kirsch HE, Knowlton RC, Kossoff EH, Kuperman R, Motika PV, Novotny EJ, Paolicchi JM, Parent JM, Park K, Poduri A, Sadleir LG, Shellhaas RA, Sherr EH, Shih JJ, Shinnar S, Singh RK, Sirven J, Smith MC, Sullivan J, Thio LL, Venkat A, Vining EPG, Von Allmen GK, Weisenberg JL, Widdess-Walsh P, Winawer MR. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. The Lancet Neurology 2017, 16(2), 135-143.
- 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.
- 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.
- 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.
- 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.
- 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.
- Thomas RH, Robertson NP. The consequences of valproate exposure in utero. Journal of Neurology 2016, 263(9), 1887-1889.
- 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, 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.
- Knott S, Forty L, Craddock N, Thomas RH. Epilepsy and bipolar disorder. Epilepsy and Behavior 2015, 52(Part A), 267-274.
- 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, 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.
- Smith P, Thomas R. Etiology of epilepsy. Seminars in Neurology 2015, 35(3), 191-192.
- 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.
- 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.
- Thomas RH. Hyperekplexia: overexcitable and underdiagnosed. Developmental Medicine and Child Neurology 2015, 57(4), 313.
- Thomas RH, Robertson NP. Testing new treatments for paediatric epilepsies. Journal of Neurology 2015, 262(8), 1996-1998.
- 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.
- 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.
- 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.
- Steer S, Pickrell WO, Kerr MP, Thomas RH. Epilepsy prevalence and socioeconomic deprivation in England. Epilepsia 2014, 55(10), 1634-1641.
- 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.
- Thomas RH, Robertson NP. Novel auto-antibody syndromes. Journal of Neurology 2014, 261(10), 2043-2045.
- Thomas RH, Berkovic SF. The hidden genetics of epilepsy - a clinically important new paradigm. Nature Reviews Neurology 2014, 10(5), 283-292.
- 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.
- 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.