De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies CT Myers, JM McMahon, AL Schneider, S Petrovski, AS Allen, GL Carvill, ... The American Journal of Human Genetics 99 (2), 287-298, 2016 | 260 | 2016 |
Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals YCA Feng, DP Howrigan, LE Abbott, K Tashman, F Cerrato, T Singh, ... The American Journal of Human Genetics 105 (2), 267-282, 2019 | 249 | 2019 |
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study AS Allen, ST Bellows, SF Berkovic, J Bridgers, R Burgess, G Cavalleri, ... The Lancet Neurology 16 (2), 135-143, 2017 | 171 | 2017 |
Human African trypanosomiasis presenting at least 29 years after infection—what can this teach us about the pathogenesis and control of this neglected tropical disease? D Sudarshi, S Lawrence, WO Pickrell, V Eligar, R Walters, S Quaderi, ... PLoS neglected tropical diseases 8 (12), e3349, 2014 | 80 | 2014 |
Weight change associated with antiepileptic drugs WO Pickrell, AS Lacey, RH Thomas, PEM Smith, MI Rees Journal of Neurology, Neurosurgery & Psychiatry 84 (7), 796-799, 2013 | 74 | 2013 |
Epilepsy and deprivation, a data linkage study WO Pickrell, AS Lacey, OG Bodger, JC Demmler, RH Thomas, RA Lyons, ... Epilepsia 56 (4), 585-591, 2015 | 70 | 2015 |
Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy C Leu, S Balestrini, B Maher, L Hernández-Hernández, P Gormley, ... EBioMedicine 2 (9), 1063-1070, 2015 | 68 | 2015 |
Trends in the first antiepileptic drug prescribed for epilepsy between 2000 and 2010 WO Pickrell, AS Lacey, RH Thomas, RA Lyons, PEM Smith, MI Rees Seizure 23 (1), 77-80, 2014 | 64 | 2014 |
GLRB is the third major gene of effect in hyperekplexia SK Chung, A Bode, TD Cushion, RH Thomas, C Hunt, SE Wood, ... Human molecular genetics 22 (5), 927-940, 2013 | 63 | 2013 |
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects LM Niestroj, E Perez-Palma, DP Howrigan, Y Zhou, F Cheng, ... Brain 143 (7), 2106-2118, 2020 | 57 | 2020 |
Validating epilepsy diagnoses in routinely collected data B Fonferko-Shadrach, AS Lacey, CP White, HWR Powell, IMS Sawhney, ... Seizure 52, 195-198, 2017 | 57 | 2017 |
Incidence, prevalence, and health care outcomes in idiopathic intracranial hypertension: a population study L Miah, H Strafford, B Fonferko-Shadrach, J Hollinghurst, IMS Sawhney, ... Neurology 96 (8), e1251-e1261, 2021 | 56 | 2021 |
A novel GABRG2 mutation, p. R136*, in a family with GEFS+ and extended phenotypes AJ Johnston, JQ Kang, W Shen, WO Pickrell, TD Cushion, JS Davies, ... Neurobiology of disease 64, 131-141, 2014 | 54 | 2014 |
Epilepsy prevalence and socioeconomic deprivation in England S Steer, WO Pickrell, MP Kerr, RH Thomas Epilepsia 55 (10), 1634-1641, 2014 | 50 | 2014 |
Using natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical … B Fonferko-Shadrach, AS Lacey, A Roberts, A Akbari, S Thompson, ... BMJ open 9 (4), e023232, 2019 | 49 | 2019 |
New hyperekplexia mutations provide insight into glycine receptor assembly, trafficking, and activation mechanisms A Bode, SE Wood, JGL Mullins, A Keramidas, TD Cushion, RH Thomas, ... Journal of Biological Chemistry 288 (47), 33745-33759, 2013 | 48 | 2013 |
Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events E Lee‐Lane, F Torabi, A Lacey, B Fonferko‐Shadrach, D Harris, A Akbari, ... Epilepsia 62 (7), 1604-1616, 2021 | 47 | 2021 |
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals JE Motelow, G Povysil, RS Dhindsa, KE Stanley, AS Allen, YCA Feng, ... The American Journal of Human Genetics 108 (6), 965-982, 2021 | 42 | 2021 |
Shared decision-making in epilepsy management WO Pickrell, G Elwyn, PEM Smith Epilepsy & Behavior 47, 78-82, 2015 | 39 | 2015 |
Next generation sequencing methodologies-an overview WO Pickrell, MI Rees, SK Chung Advances in protein chemistry and structural biology 89, 1-26, 2012 | 34 | 2012 |