Browse by Current Cardiff authors

Eaton, C. B. ORCID: https://orcid.org/0000-0001-6739-1999, Thomas, R. H. ORCID: https://orcid.org/0000-0003-2062-8623, Hamandi, K. H., Payne, G. C., Kerr, M. P., Linden, D. E. J. ORCID: https://orcid.org/0000-0002-5638-9292, Owen, M. J. ORCID: https://orcid.org/0000-0003-4798-0862, Cunningham, A. C., Bartsch, U. B., Struik, S. S. and van den Bree, M. B. M. ORCID: https://orcid.org/0000-0002-4426-3254 2019. Prevalence and aetiology of epileptic seizures in young people with 22Q11.2 Deletion syndrome and relationships with other neurodevelopmental disorders. Presented at: SSBP 22nd Educational Day and Research Symposium 2019, Birmingham, England, 4-6 September 2019. Journal of Intellectual Disability Research. , vol.63 (9) Wiley, p. 1080. 10.1111/jir.12676

Eaton, Christopher ORCID: https://orcid.org/0000-0001-6739-1999, Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623, Hamandi, Khalid, Payne, Gareth, Kerr, Michael, Linden, David, Owen, Michael ORCID: https://orcid.org/0000-0003-4798-0862, Cunningham, Adam, Bartsch, Ullrich, Struik, Siske and van den Bree, Marianne ORCID: https://orcid.org/0000-0002-4426-3254 2019. Epilepsy and seizures in young people with 22q11.2 deletion syndrome: prevalence and links with other neurodevelopmental disorders. Epilepsia 60 (5) , pp. 818-829. 10.1111/epi.14722

Lacey, Arron S, Pickrell, William Owen, Thomas, Rhys H. ORCID: https://orcid.org/0000-0003-2062-8623, Kerr, Mike P., White, Cathy P and Rees, Mark I 2018. Educational attainment of children born to mothers with epilepsy. Journal of Neurology, Neurosurgery and Psychiatry 89 (7) , pp. 736-740. 10.1136/jnnp-2017-317515

Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623 2018. Valproate: life-saving, life-changing. Clinical Medicine 18 (S2) , s1-s8. 10.7861/clinmedicine.18-2-s1

Whelan, Christopher D, Altmann, Andre, Botía, Juan A, Jahanshad, Neda, Hibar, Derrek P, Absil, Julie, Alhusaini, Saud, Alvim, Marina K M, Auvinen, Pia, Bartolini, Emanuele, Bergo, Felipe P G, Bernardes, Tauana, Blackmon, Karen, Braga, Barbara, Caligiuri, Maria Eugenia, Calvo, Anna, Carr, Sarah J, Chen, Jian, Chen, Shuai, Cherubini, Andrea, David, Philippe, Domin, Martin, Foley, Sonya ORCID: https://orcid.org/0000-0002-8390-2709, França, Wendy, Haaker, Gerrit, Isaev, Dmitry, Keller, Simon S, Kotikalapudi, Raviteja, Kowalczyk, Magdalena A, Kuzniecky, Ruben, Langner, Soenke, Lenge, Matteo, Leyden, Kelly M, Liu, Min, Loi, Richard Q, Martin, Pascal, Mascalchi, Mario, Morita, Marcia E, Pariente, Jose C, Rodríguez-Cruces, Raul, Rummel, Christian, Saavalainen, Taavi, Semmelroch, Mira K, Severino, Mariasavina, Thomas, Rhys H ORCID: https://orcid.org/0000-0003-2062-8623, Tondelli, Manuela, Tortora, Domenico, Vaudano, Anna Elisabetta, Vivash, Lucy, von Podewils, Felix, Wagner, Jan, Weber, Bernd, Yao, Yi, Yasuda, Clarissa L, Zhang, Guohao, Bargalló, Nuria, Bender, Benjamin, Bernasconi, Neda, Bernasconi, Andrea, Bernhardt, Boris C, Blümcke, Ingmar, Carlson, Chad, Cavalleri, Gianpiero L, Cendes, Fernando, Concha, Luis, Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Doherty, Colin P, Focke, Niels K, Gambardella, Antonio, Guerrini, Renzo, Hamandi, Khalid, Jackson, Graeme D, Kälviäinen, Reetta, Kochunov, Peter, Kwan, Patrick, Labate, Angelo, McDonald, Carrie R, Meletti, Stefano, O'Brien, Terence J, Ourselin, Sebastien, Richardson, Mark P, Striano, Pasquale, Thesen, Thomas, Wiest, Roland, Zhang, Junsong, Vezzani, Annamaria, Ryten, Mina, Thompson, Paul M and Sisodiya, Sanjay M 2018. Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study. Brain 141 (2) , pp. 391-408. 10.1093/brain/awx341

Hughes, Emily and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2017. Epilepsy treatment priorities: answering the questions that matter. Journal of Neurology, Neurosurgery, and Psychiatry 88 (11) , pp. 999-1001. 10.1136/jnnp-2016-315135

Abdul Rahim, Mohammad Izzat and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2017. Gamification of medication adherence in epilepsy. Seizure - European Journal of Epilepsy 52 , pp. 11-14. 10.1016/j.seizure.2017.09.008

Smith, Phillip ORCID: https://orcid.org/0000-0003-4250-2562 and Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623 2017. Phenotypic analysis of 303 multiplex families with common epilepsies. Brain 140 (8) , pp. 2144-2156. 10.1093/brain/awx129

Kendall, Kimberley M. ORCID: https://orcid.org/0000-0002-6755-6121, Rees, Elliott ORCID: https://orcid.org/0000-0002-6168-9222, Escott-Price, Valentina ORCID: https://orcid.org/0000-0003-1784-5483, Einon, Mark ORCID: https://orcid.org/0000-0003-3797-7352, Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623, Hewitt, Jonathan ORCID: https://orcid.org/0000-0002-7924-1792, O'Donovan, Michael C. ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Walters, James T. R. ORCID: https://orcid.org/0000-0002-6980-4053 and Kirov, George ORCID: https://orcid.org/0000-0002-3427-3950 2017. Cognitive performance among carriers of pathogenic copy number variants: analysis of 152,000 UK Biobank subjects. Biological Psychiatry 82 (2) , P103-110. 10.1016/j.biopsych.2016.08.014

Handley, Joel D, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, McKenna, Pat and Hughes, Thomas A. T. 2017. On the road again: assessing driving ability in patients with neurological conditions. Practical Neurology 17 (3) 10.1136/practneurol-2017-001601

Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623 2017. Ultra-rare genetic variation in common epilepsies: a case-control sequencing study. Lancet Neurology 16 (2) , pp. 135-143. 10.1016/S1474-4422(16)30359-3

Jones, Lliwen and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2017. Sudden death in epilepsy: insights from the last 25 years. Seizure - European Journal of Epilepsy 44 , pp. 232-236. 10.1016/j.seizure.2016.10.002

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2016. What can rare variant genetics tell us about cognition and intellectual difficulties? Journal of Neurology 263 (12) , pp. 2565-2566. 10.1007/s00415-016-8326-6

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2016. The consequences of valproate exposure in utero. Journal of Neurology 263 (9) , pp. 1887-1889. 10.1007/s00415-016-8269-y

Strehlow, Vincent, Swinkels, Marielle E.M., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Rapps, Nora, Syrbe, Steffen, Dorn, Thomas and Lemke, Johannes R. 2016. Generalized epilepsy and myoclonic seizures in 22q11.2 deletion syndrome. Molecular Syndromology 7 (4) , pp. 239-246. 10.1159/000448445

Williams, Christopher J, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Pickersgill, Trevor P, Lyons, Marion, Lowe, Gwen, Stiff, Rhianwen E, Moore, Catherine, Jones, Rachel, Howe, Robin, Brunt, Huw, Ashman, Anna and Mason, Brendan W 2016. 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 21 (4) , 30119. 10.2807/1560-7917.ES.2016.21.4.30119

Knott, Sarah, Forty, Elizabeth, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2015. Epilepsy and bipolar disorder. Epilepsy & Behavior 52 , pp. 267-274. 10.1016/j.yebeh.2015.07.003

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Devine, Helen, Donnelly, Ann, Foulkes, Alexander, Galtrey, Clare, Khaleeli, Zhaleh, Lawrence, Joanne, Novak, Marianne, Redgrave, Jessica and Tallantyre, Emma C. ORCID: https://orcid.org/0000-0002-3760-6634 2015. Why neurology? The career choices of current UK neurology trainees [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 86 (11) , e4. 10.1136/jnnp-2015-312379.42

Leu, Costin, Balestrini, Simona, Maher, Bridget, Hernández-Hernández, Laura, Gormley, Padhraig, Hämäläinen, Eija, Heggeli, Kristin, Schoeler, Natasha, Novy, Jan, Willis, Joseph, Plagnol, Vincent, Ellis, Rachael, Reavey, Eleanor, O'Regan, Mary, Pickrell, William O., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, Seo-Kyung, Delanty, Norman, McMahon, Jacinta M., Malone, Stephen, Sadleir, Lynette G., Berkovic, Samuel F., Nashef, Lina, Zuberi, Sameer M., Rees, Mark I., Cavalleri, Gianpiero L., Sander, Josemir W., Hughes, Elaine, Helen Cross, J., Scheffer, Ingrid E., Palotie, Aarno and Sisodiya, Sanjay M. 2015. Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy. EBioMedicine 2 (9) , pp. 1063-1070. 10.1016/j.ebiom.2015.07.005

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2015. Testing new treatments for paediatric epilepsies. Journal of Neurology 262 (8) , pp. 1996-1998. 10.1007/s00415-015-7857-6

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2015. Etiology of epilepsy. Seminars in Neurology 35 (03) , pp. 191-192. 10.1055/s-0035-1552626

Pickrell, William O., Lacey, Arron S., Bodger, Owen G., Demmler, Joanne C., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Lyons, Ronan A., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562, Rees, Mark I. and Kerr, Michael Patrick 2015. Epilepsy and deprivation, a data linkage study. Epilepsia 56 (4) , pp. 585-591. 10.1111/epi.12942

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2015. Hyperekplexia: overexcitable and underdiagnosed. Developmental Medicine & Child Neurology 57 (4) , p. 313. 10.1111/dmcn.12638

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Zhang, L., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S., Mefford, H. C. and Scheffer, I. E. 2015. CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures. Neurology 84 (9) , pp. 951-958. 10.1212/WNL.0000000000001305

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Drew, Cheney ORCID: https://orcid.org/0000-0002-4397-6252, Wood, S. E., Hammond, C. L., Chung, S. K. and Rees, M. I. 2015. Ethnicity can predict GLRA1 genotypes in hyperekplexia. Journal of Neurology, Neurosurgery & Psychiatry 86 (3) , pp. 341-343. 10.1136/jnnp-2014-307903

Caeyenberghs, K., Powell, H.W.R., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Brindley, Lisa ORCID: https://orcid.org/0000-0002-6673-3800, Church, C., Evans, J., Muthukumaraswamy, S.D., Jones, Derek ORCID: https://orcid.org/0000-0003-4409-8049 and Hamandi, Khalid 2015. Hyperconnectivity in juvenile myoclonic epilepsy: A network analysis. NeuroImage: Clinical 7 , pp. 98-104. 10.1016/j.nicl.2014.11.018

Steer, Samuel, Pickrell, William O., Kerr, Michael Patrick and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2014. Epilepsy prevalence and socioeconomic deprivation in England. Epilepsia 55 (10) , pp. 1634-1641. 10.1111/epi.12763

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2014. Novel auto-antibody syndromes. Journal of Neurology 261 (10) , pp. 2043-2045. 10.1007/s00415-014-7497-2

Powell, Rob, Caeyenberghs, Karen, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Jones, Jones, Derek K. ORCID: https://orcid.org/0000-0003-4409-8049 and Hamandi, Khalid 2014. Hyperconnectivity in JME-a network analysis. Journal of Neurology, Neurosurgery & Psychiatry 85 (10) , A2. 10.1136/jnnp-2014-309236.5

Pickrell, Owen, Lacey, Arron, Bodger, Owen, Demmler, Joanne, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Lyons, Ronan, Smith, Phil, Rees, Mark and Kerr, Michael Patrick 2014. Epilepsy prevalence, incidence and socioeconomic deprivation [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 85 (10) , e4.150. 10.1136/jnnp-2014-309236.4

Rohrer, J. D., Devine, H., Foulkes, A., Johnston, A., Mallam, B., Marshall, C., Stanton, B., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Blackburn, D. 2014. Developing a neurology mentoring programme for trainees. Journal of Neurology, Neurosurgery & Psychiatry 85 (10) , e4. 10.1136/jnnp-2014-309236.50

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Walsh, Jordana, Church, Carla, Sills, Graeme J., Marson, Anthony G., Baker, Gus A. and Rees, Mark I. 2014. A comprehensive neuropsychological description of cognition in drug-refractory juvenile myoclonic epilepsy. Epilepsy & Behavior 36 , pp. 124-129. 10.1016/j.yebeh.2014.04.027

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Zhang, L. M., Carvill, G. L., Archer, J. S., Heavin, S. B., Mandelstam, S. A., Craiu, D., Berkovic, S. F., Gill, D. S. and Scheffer, I. E. 2014. CHD2 mutations produce an early childhood encephalopathy with prominent photosensitive seizures. Epilepsia 55 (S2) , pp. 150-151. 10.1111/epi.12675

Koepp, Matthias J., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Wandschneider, Britta, Berkovic, Samuel F. and Schmidt, Dieter 2014. Concepts and controversies of juvenile myoclonic epilepsy: still an enigmatic epilepsy. Expert Review of Neurotherapeutics 14 (7) , pp. 819-831. 10.1586/14737175.2014.928203

Walsh, Jordana, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Church, Carla, Rees, Mark I., Marson, Anthony G. and Baker, Gus A. 2014. Executive functions and psychiatric symptoms in drug-refractory juvenile myoclonic epilepsy. Epilepsy & Behavior 35 , pp. 72-77. 10.1016/j.yebeh.2014.03.026

Thomas, Rhys Huws ORCID: https://orcid.org/0000-0003-2062-8623 and Berkovic, Samuel F. 2014. The hidden genetics of epilepsy - a clinically important new paradigm. Nature Reviews Neurology 10 (5) , pp. 283-292. 10.1038/nrneurol.2014.62

Johnston, Ann J., Kang, Jing-Qiong, Shen, Wangzhen, Pickrell, William O., Cushion, Thomas D., Davies, Jeffrey S., Baer, Kristin, Mullins, Jonathan G. L., Hammond, Carrie L., Chung, Seo-Kyung, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, White, Cathy, Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562, Macdonald, Robert L. and Rees, Mark I. 2014. A Novel GABRG2 mutation, p.R136*, in a family with GEFS+ and extended phenotypes. Neurobiology of Disease 64 , pp. 131-141. 10.1016/j.nbd.2013.12.013

Pickrell, W. Owen, Lacey, Arron S., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Lyons, Ronan A., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Rees, Mark I. 2014. Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010. Seizure - European Journal of Epilepsy 23 (1) , pp. 77-80. 10.1016/j.seizure.2013.09.007

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Mullins, Jane M., Hammond, Carrie L., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Kerr, Michael Patrick 2013. The importance of the experiences of initial diagnosis and treatment failure when switching antiepileptic drugs. Epilepsy & Behavior 29 (3) , pp. 492-6. 10.1016/j.yebeh.2013.08.025

Thomas, R.H. ORCID: https://orcid.org/0000-0003-2062-8623, Mullins, J.M., Hammond, C.L., Smith, Phillip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Kerr, Michael 2013. The importance of the experiences of initial diagnosis and treatment failure when switching anti-epileptic drugs. Epilepsy and Behavior 29 , pp. 492-496.

Bates, Janine, Thomas-Jones, E ORCID: https://orcid.org/0000-0001-7716-2786, Kirby, N, Pickles, T ORCID: https://orcid.org/0000-0001-7743-0234, Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623, Bongard, E ORCID: https://orcid.org/0000-0001-5957-6280, Gal, M ORCID: https://orcid.org/0000-0002-1326-190X, Little, P, Verheij, T, Llor, C, Cohen, D, Francis, N ORCID: https://orcid.org/0000-0001-8939-7312, Hood, K ORCID: https://orcid.org/0000-0002-5268-8631 and Butler, C ORCID: https://orcid.org/0000-0002-0102-3453 2013. Effects of an optimised POCT guided diagnostic and treatment strategy for symptoms of uncomplicated UTI on use of appropriate antibiotics and uptake into primary care practice. [Abstract]. Trials 14 (S1) , -. 10.1186/1745-6215-14-S1-P10

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, Seo-Kyung, Hamandi, Khalid, Rees, Mark I. and Kerr, Michael Patrick 2013. Translation of genetic findings to clinical practice in juvenile myoclonic epilepsy. Epilepsy & Behavior 26 (3) , pp. 241-246. 10.1016/j.yebeh.2012.09.006

Bode, A., Wood, S.-E., Mullins, J. G. L., Keramidas, A., Cushion, T. D., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Pickrell, W. O., Drew, C. J. G., Masri, A., Jones, E. A., Vassallo, G., Born, A. P., Alehan, F., Aharoni, S., Bannasch, G., Bartsch, M., Kara, B., Krause, A., Karam, E. G., Matta, S., Jain, V., Mandel, H., Freilinger, M., Graham, G. E., Hobson, E., Chatfield, S., Vincent-Delorme, C., Rahme, J. E., Afawi, Z., Berkovic, S. F., Howell, O. W., Vanbellinghen, J.-F., Rees, M. I., Chung, S.-K. and Lynch, J. W. 2013. New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms. Journal of Biological Chemistry 288 (47) , pp. 33745-33759. 10.1074/jbc.M113.509240

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, S.-K., Wood, S. E., Cushion, T. D., Drew, C. J. G., Hammond, C. L., Vanbellinghen, J.-F., Mullins, J. G. L. and Rees, M. I. 2013. Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay. Brain 136 (10) , p. 3085. 10.1093/brain/awt207

James, Victoria M., Bode, Anna, Chung, Seo-Kyung, Gill, Jennifer L., Nielsen, Maartje, Cowan, Frances M., Vujic, Mihailo, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Rees, Mark I., Harvey, Kirsten, Keramidas, Angelo, Topf, Maya, Ginjaar, Ieke, Lynch, Joseph W. and Harvey, Robert J. 2013. Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease. Neurobiology of Disease 52 , pp. 137-149. 10.1016/j.nbd.2012.12.001

Wood, Rodger Ll and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2013. Impulsive and episodic disorders of aggressive behaviour following traumatic brain injury. Brain Injury 27 (3) , pp. 253-261. 10.3109/02699052.2012.743181

Lacey, AS, White, CP, Pickrell, WO, Rees, MI and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2013. PP8.3 - 1910 Academic achievement of 7 year old children in Wales born to mothers taking anticonvulsants in pregnancy [Conference Abstract]. European Journal of Paediatric Neurology 17 , S51-S51. 10.1016/S1090-3798(13)70173-9

Walsh, J., Marson, A.G., Smith, P.E.M., Rees, M.I., Baker, G.A. and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2013. [0026] Neuroticism and executive function in drug-refractory juvenile myoclonic epilepsy [Conference Abstract]. Epilepsy & Behavior 28 , S100-S100. 10.1016/j.yebeh.2012.11.036

Glasbey, James, Gilpin, T. R., Steer, Samuel, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, P. E. M. 2012. Has a pay for performance strategy in primary care improved epilepsy management in the UK? Journal of Neurology, Neurosurgery & Psychiatry 83 (3) , e1. 10.1136/jnnp-2011-301993.99

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Steer, S., Gilpin, T. R., Glasbey, J. C. D., King, W. H. and Smith, P. E. M. 2012. Variability in adult epilepsy prevalence in the UK. Journal of Neurology, Neurosurgery & Psychiatry 83 (3) , e1. 10.1136/jnnp-2011-301993.98

Morrison, Nicola, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2012. Juvenile myoclonic epilepsy. British Medical Journal 344 , e360. 10.1136/bmj.e360

Kendall, Kimberley ORCID: https://orcid.org/0000-0002-6755-6121, Thomas, Rhys ORCID: https://orcid.org/0000-0003-2062-8623, Corkill, Robin G. and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2012. A neurological presentation of intravascular B-cell lymphoma. Case Reports 10.1136/bcr-2012-006439

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2012. Phenotyping paroxysmal conditions to empower genetic research. PhD Thesis, Cardiff University. Item availability restricted.

Thompson, Rose, Drew, Cheney ORCID: https://orcid.org/0000-0002-4397-6252 and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2012. Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges. Advances in Protein Chemistry and Structural Biology 89 , pp. 27-63. 10.1016/B978-0-12-394287-6.00002-1

Pickrell, W. O., Lacey, A. S., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Rees, M. I. 2012. Weight change associated with antiepileptic drugs. Journal of Neurology, Neurosurgery & Psychiatry 84 (7) , pp. 796-799. 10.1136/jnnp-2012-303688

Chung, S.-K., Bode, A., Cushion, T. D., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Hunt, C., Wood, S.-E., Pickrell, W. O., Drew, C. J. G., Yamashita, S., Shiang, R., Leiz, S., Longhardt, A.-C., Raile, V., Weschke, B., Puri, R. D., Verma, I. C., Harvey, R. J., Ratnasinghe, D. D., Parker, M., Rittey, C., Masri, A., Lingappa, L., Howell, O. W., Vanbellinghen, J.-F., Mullins, J. G., Lynch, J. W. and Rees, M. I. 2012. GLRB is the third major gene of effect in hyperekplexia. Human Molecular Genetics 22 (5) , pp. 927-940. 10.1093/hmg/dds498

Lacey, A., Smith, P., Rees, M. and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2012. SUDEP (Sudden Unexpected Death in Epilepsy) following status epilepticus [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 83 (Suppl) , A38-A38. 10.1136/jnnp-2012-304200a.139

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Forty, Elizabeth, Craddock, Nicholas John ORCID: https://orcid.org/0000-0003-2171-0610 and Jones, Ian Richard ORCID: https://orcid.org/0000-0001-5821-5889 2012. MP 1 Epilepsy in adults with bipolar disorder [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 83 (10) , e1-e1. 10.1136/jnnp-2012-303538.5

Gimenez, C., Perez-Siles, G., Martinez-Villarreal, J., Arribas-Gonzalez, E., Jimenez, E., Nunez, E., de Juan-Sanz, J., Fernandez-Sanchez, E., Garcia-Tardon, N., Ibanez, I., Romanelli, V., Nevado, J., James, V. M., Topf, M., Chung, S.-K., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Desviat, L. R., Aragon, C., Zafra, F., Rees, M. I., Lapunzina, P., Harvey, R. J. and Lopez-Corcuera, B. 2012. A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2. Journal of Biological Chemistry 287 (34) , pp. 28986-29002. 10.1074/jbc.M111.319244

Carta, E., Chung, S.-K., James, V. M., Robinson, A., Gill, J. L., Remy, N., Vanbellinghen, J.-F., Drew, C. J. G., Cagdas, S., Cameron, D., Cowan, F. M., Del Toro, M., Graham, G. E., Manzur, A. Y., Masri, A., Rivera, S., Scalais, E., Shiang, R., Sinclair, K., Stuart, C. A., Tijssen, M. A. J., Wise, G., Zuberi, S. M., Harvey, K., Pearce, B. R., Topf, M., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Supplisson, S., Rees, M. I. and Harvey, R. J. 2012. Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. Journal of Biological Chemistry 287 (34) , pp. 28975-28985. 10.1074/jbc.M112.372094

Kendall, K., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Lammie, G. A., Neal, J. W., Corkill, R. G. and Robertson, Neil ORCID: https://orcid.org/0000-0002-5409-4909 2012. 176 Intravascular B cell lymphoma: a case series [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 83 (3) , e1-e1. 10.1136/jnnp-2011-301993.218

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Drew, Cheney J., Howell, Owain W., Cushion, Thomas, Wood, Sian E., Mullins, Jonathan G., Chung, SeoKyung and Rees, Mark I. 2012. Hyperekplexia phenotypes associated with GLRB mutations [Conference Abstract]. Annals of Neurology 72 (S16) , S25-S25. 10.1002/ana.23769

Hunt, Charlotte, Derrick, Anna, Cushion, Thomas, Wood, Sian, Drew, Cheney, Howells, Owain W., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, Seo Kyung and Rees, Mark I. 2012. GLRB is the 3rd major gene-of-effect in hyperekplexia [Conference Abstract]. Annals of Neurology 72 (S16) , S24-S24. 10.1002/ana.23769

Wood, S. E., Ali, S., Drew, C., Howell, O. W., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Rees, M. I. and Chung, S. 2012. Mutations within the GLRA1 gene associated with hyperekplexia [Conference Abstract]. Epilepsia 53 , p. 69. 10.1111/j.1528-1167.2012.03677.x

Lacey, A., Rees, M. I., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2012. SUDEP following status epilepticus [Conference Abstract]. Epilepsia 53 , p. 27. 10.1111/j.1528-1167.2012.03677.x

Chung, S. K., Hunt, C. A., Derrick, A. V., Cushion, T. D., Wood, S.E., Drew, C., Howells, O. W., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Rees, M. I. 2012. GLRB is the 3rd major gene-of-effect in hyperekplexia [Conference Abstract]. Epilepsia 53 , pp. 38-39. 10.1111/j.1528-1167.2012.03677.x

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Pickrell, W. O., Johnston, A. J., Hammond, C., Drew, C., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Rees, M. I. 2012. SUDEP and familial epilepsy [Conference Abstract]. Epilepsia 53 , p. 40. 10.1111/j.1528-1167.2012.03677.x

Pickrell, W. O., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Johnston, A. J., White, C. and Rees, M. I. 2012. Alice in Wonderland syndrome: epilepsy, migraine or both? [Conference Abstract]. Epilepsia 53 , p. 41. 10.1111/j.1528-1167.2012.03677.x

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Johnston, J. A., Hammond, C. L., Bagguley, S., White, C., Smith, P. E. and Rees, M. 2011. "Borderline" generalised epilepsy with febrile seizures plus (GEFS+). Epilepsia 52 (S6) , pp. 96-97. 10.1111/j.1528-1167.2011.03207.x

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2011. Epilepsy is different [Editorial]. Journal of the Royal Society of Medicine 104 (4) , pp. 141-143. 10.1258/jrsm.2011.100412

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Johnston, Janet Ann, Hammond, C. L., Bagguley, Simon, White, C., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Rees, M. I. 2011. Genetic epilepsy with febrile seizures plus: definite and borderline phenotypes. Journal of Neurology, Neurosurgery & Psychiatry 83 (3) , pp. 336-338. 10.1136/jnnp-2011-300405

Waddington, Keir ORCID: https://orcid.org/0000-0001-8833-8855, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Willis, Martin ORCID: https://orcid.org/0000-0002-4186-2921 2011. Reading general paralysis of the insane. Practical Neurology 11 (6) , pp. 366-369. 10.1136/practneurol-2011-000112

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, S. K., Hammond, C. L., Robinson, A. and Rees, M. I. 2011. PO.04 Ethnic variation in GLRA1 genotype in hyperekplexia [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 82 (9) , e4-e4. 10.1136/jnnp-2011-300645.16

Hammond, Carrie Louise, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Rees, Mark I., Kerr, Michael Patrick and Rapport, Frances 2010. Implications for families of advances in understanding the genetic basis of epilepsy. Seizure - European Journal of Epilepsy 19 (10) , pp. 675-679. 10.1016/j.seizure.2010.10.022

Johnston, J. A., Davies, J. S., Baer, K., Hammond, C. L., Mullins, J. G. L., Cushion, T. D., Chung, S. K., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Morris, H. R., White, C., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Rees, M. I. 2010. PATH42 Lineage, clinical, genetic, structural and cellular characterisation of a novel epilepsy mutation [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 81 (11) , e19-e19.

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, S. K., Hammond, C. L., Robinson, A. and Rees, M. I. 2010. PATH40 Spectrum of clinical disease in hyperekplexia: the genotypes and phenotypes of 48 cases [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 81 (11) , e18-e19.

Walker, C., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2010. The dark night. Practical Neurology 10 (5) , pp. 290-294. 10.1136/jnnp.2010.224113

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Mullins, J. M., Waddington, T., Nugent, K. and Smith, P. E. M. 2010. Epilepsy: Creative sparks. Practical Neurology 10 (4) , pp. 219-226. 10.1136/jnnp.2010.217984

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, King, W. H., Johnston, J. A. and Smith, P. E. M. 2010. Awake seizures after pure sleep-related epilepsy: a systematic review and implications for driving law. Journal of Neurology, Neurosurgery & Psychiatry 81 (2) , pp. 130-135. 10.1136/jnnp.2009.181438

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Stephenson, John B. P., Harvey, Robert J. and Rees, Mark I. 2010. Hyperekplexia: stiffness, startle and syncope. Journal of Pediatric Neurology 8 (1) , pp. 11-14. 10.3233/JPN-2010-0359

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Hammond, C. L., Bodger, O. G., Rees, Mark I. and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2010. Identifying and prioritising epilepsy treatment uncertainties. Journal of Neurology, Neurosurgery & Psychiatry 81 (8) , pp. 918-921. 10.1136/jnnp.2009.192716

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2010. International League Against Epilepsy [Conference Material]. Progress in Neurology and Psychiatry 14 (6) , p. 32. 10.1002/pnp.181

Hilditch, C. A., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Gibbon, F. and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2010. POE06 The teenage epilepsy clinic: an observational study [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 81 (11) , e47-e47. 10.1136/jnnp.2010.226340.120

Walker, C., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2010. POC10 The dark night: a family diagnosis [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 81 (11) , e37-e37. 10.1136/jnnp.2010.226340.80

Johnston, J. A., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Hammond, C. L., Bagguley, S., White, C., Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 and Rees, M. I. 2010. POE08 Generalised (or genetic) epilepsy with febrile seizures plus phenotypes of definite and borderline UK families [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 81 (11) , e48-e48. 10.1136/jnnp.2010.226340.122

Chung, S.-K., Vanbellinghen, J.-F., Mullins, J. G. L., Robinson, A., Hantke, J., Hammond, C. L., Gilbert, D. F., Freilinger, M., Ryan, M., Kruer, M. C., Masri, A., Gurses, C., Ferrie, C., Harvey, K., Shiang, R., Christodoulou, J., Andermann, F., Andermann, E., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Harvey, R. J., Lynch, J. W. and Rees, M. I. 2010. Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia. Journal of Neuroscience 30 (28) , pp. 9612-9620. 10.1523/JNEUROSCI.1763-10.2010

Davies, Jeff S., Chung, Seo-Kyung, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Robinson, Angela, Hammond, Carrie L., Mullins, Jonathan G. L., Carta, Eloise, Pearce, Brian R., Harvey, Kirsten, Harvey, Robert J. and Rees, Mark I. 2010. The glycinergic system in human startle disease: a genetic screening approach. Frontiers in Molecular Neuroscience (3) 10.3389/fnmol.2010.00008

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Chung, S. K., Rees, M. I., Robinson, A. and Hammond, C. L. 2010. The spectrum of clinical disease in hyperekplexia: genotype and phenotype of forty-two cases [Conference Abstract]. Developmental Medicine & Child Neurology 52 , p. 13. 10.1111/j.1469-8749.2009.03574.x

Johnston, J. A., Hammond, C. L., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Morris, H. R., Smith, P. E. M. and Rees, M. I. 2009. Wales epilepsy research network: research at the multifaceted coalface: a model for other research networks. Journal of Neurology, Neurosurgery & Psychiatry 80 (11)

Johnston, Janet A., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Hammond, C. L., Morris, H. R., Smith, P. E. and Rees, M. I. 2009. A novel GABRG2 mutation in an epilepsy family. Epilepsia 50 , pp. 152-153.

Johnston, J. A., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Hammond, C. L., Morris, H. R., Smith, P. E. M. and Rees, M. I. 2009. Bench-to-bedside: first molecular epilepsy outcomes from the Wales epilepsy research network: a novel GABRG2 mutation in an epilepsy family. Journal of Neurology, Neurosurgery & Psychiatry 80 (11)

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, King, W. H., Johnston, J. A. and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2009. Occurrence of wake seizures after pure sleep epilepsy: a systematic review and implications for driving law [Cpmference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 80 , e1-e1. 10.1136/jnnp.2009.195172o

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Patel, A., Lane, C., Hourihan, M., Neal, J. W., Poynton, C. H. and Wiles, C. M. 2009. Relapsing–remitting lymphoplasmacytic lymphoma of the cns and orbit in a young man [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 80 (1) , pp. 97-128. 10.1136/jnnp.2008.163279

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2009. Encephalitis guidelines: a recipe for success? Clinical Medicine 9 (3) , pp. 210-211. 10.7861/clinmedicine.9-3-210

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Bennetto, Luke and Silva, Mark T. 2009. Reversible grasp reflexes in normal pressure hydrocephalus. Clinical Neurology and Neurosurgery 111 (4) , pp. 387-389. 10.1016/j.clineuro.2008.11.012

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Hughes, T A T 2009. "Can I drive, doctor?" LEAN thinking may help us answer the question [Review]. Practical Neurology 9 (2) , pp. 71-79. 10.1136/jnnp.2008.171157

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Thomas, N. J P 2009. House calls: The case of the entertaining case. British Medical Journal (BMJ) 339 (dec16) , b5256-b5256. 10.1136/bmj.b5256

Kolli, Sreedhar, Mallipedhi, Akhila, Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Reddy, Male Kishore 2009. Injudicious antibiotic use leading to fulminating Clostridium difficile infection: a case report. Cases Journal 2 (1) , p. 7978. 10.4076/1757-1626-2-7978

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Higgins, S and Fuller, G N 2008. Dental injury during seizures associated with juvenile myoclonic epilepsy. Journal of Neurology, Neurosurgery & Psychiatry 80 (1) , pp. 91-93. 10.1136/jnnp.2008.144659

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Hughes, T A T 2008. Dot-to-dot. Practical Neurology 8 (5) , pp. 325-329. 10.1136/jnnp.2008.159525

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2008. How do doctors choose their specialty: first love, arranged marriage or second time around? And how may an affair with MMC change this? Clinical Medicine 8 (5) , pp. 490-492. 10.7861/clinmedicine.8-5-490

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2008. Semantic memory testing and Mr Blair: how to be forgotten as prime minister [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 79 (3) , p. 352.

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Smith, Philip E. M. ORCID: https://orcid.org/0000-0003-4250-2562 2008. Epilepsy in older adults. Geriatric Medicine 38 (2) , pp. 16-23.

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2007. Good Samaritan Acts. British Medical Journal 35 (7625) , p. 150.

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Higgins, S. and Fuller, G. N. 2007. Falling on your face: traumatic anterior repeated dental injuries with seizures are specific for juvenile myoclonic epilepsy [Conference Abstract]. Journal of Neurology, Neurosurgery & Psychiatry 78 (9) , pp. 1028-1029.

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 2007. Careers advice: Paper is essential reading for the tall and beautiful [Letter]. British Medical Journal (BMJ) 334 (7584) , p. 58. 10.1136/bmj.39086.919051.1F

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Thomas, N. J P 2006. Miracle hiccough cure gets the attention it deserves [Letter]. British Medical Journal (BMJ) 333 (7580) , p. 1222. 10.1136/bmj.39051.721632.3A

Dutta, D., Wood, T., Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623 and Asrar ul Haq, M. 2006. Is overnight tube feeding associated with hypoxia in stroke? Age and Ageing 35 (6) , pp. 627-629. 10.1093/ageing/afl099

Thomas, Rhys Huw ORCID: https://orcid.org/0000-0003-2062-8623, Lewis, D. J., Griffiths, E. J. and Suleiman, M. S. 2001. Ischaemic preconditioning by metabolic inhibition in isolated perfused cardiac myocytes [Conference Abstract]. The Journal of Physiology 531 (Suppl.) , 191P-191P.