Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort JD Symonds, SM Zuberi, K Stewart, A McLellan, M O ‘Regan, S MacLeod, ... Brain 142 (8), 2303-2318, 2019 | 418 | 2019 |
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome A Brunklaus, R Ellis, E Reavey, GH Forbes, SM Zuberi Brain 135 (8), 2329-2336, 2012 | 397 | 2012 |
Genotype–phenotype associations in SCN1A-related epilepsies SM Zuberi, A Brunklaus, R Birch, E Reavey, J Duncan, GH Forbes Neurology 76 (7), 594-600, 2011 | 296 | 2011 |
Evidence for oxidative stress in the frontal cortex in patients with recurrent depressive disorder—a postmortem study TM Michel, S Frangou, D Thiemeyer, S Camara, J Jecel, K Nara, ... Psychiatry research 151 (1-2), 145-150, 2007 | 232 | 2007 |
Dravet syndrome and its mimics: Beyond SCN1A D Steel, JD Symonds, SM Zuberi, A Brunklaus Epilepsia 58 (11), 1807-1816, 2017 | 197 | 2017 |
Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants JD Symonds, KS Elliott, J Shetty, M Armstrong, A Brunklaus, I Cutcutache, ... Brain 144 (9), 2879-2891, 2021 | 162 | 2021 |
Dravet syndrome—from epileptic encephalopathy to channelopathy A Brunklaus, SM Zuberi Epilepsia 55 (7), 979-984, 2014 | 155 | 2014 |
International consensus recommendations for management of new onset refractory status epilepticus including febrile infection‐related epilepsy syndrome: Statements and … R Wickstrom, O Taraschenko, R Dilena, ET Payne, N Specchio, ... Epilepsia 63 (11), 2840-2864, 2022 | 142* | 2022 |
The genetic landscape of epilepsy of infancy with migrating focal seizures R Burgess, S Wang, A McTague, KE Boysen, X Yang, Q Zeng, KA Myers, ... Annals of neurology 86 (6), 821-831, 2019 | 136 | 2019 |
Outcome and prognostic features in opsoclonus-myoclonus syndrome from infancy to adult life A Brunklaus, K Pohl, SM Zuberi, C de Sousa Pediatrics 128 (2), e388-e394, 2011 | 135 | 2011 |
Comorbidities and predictors of health‐related quality of life in Dravet syndrome A Brunklaus, L Dorris, SM Zuberi Epilepsia 52 (8), 1476-1482, 2011 | 133 | 2011 |
A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants JA López-Rivera, E Pérez-Palma, J Symonds, AS Lindy, DA McKnight, ... Brain 143 (4), 1099-1105, 2020 | 130 | 2020 |
Predicting functional effects of missense variants in voltage-gated sodium and calcium channels HO Heyne, D Baez-Nieto, S Iqbal, DS Palmer, A Brunklaus, P May, ... Science translational medicine 12 (556), eaay6848, 2020 | 125 | 2020 |
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial EMP Knight, S Amin, N Bahi-Buisson, TA Benke, JH Cross, ST Demarest, ... The Lancet Neurology 21 (5), 417-427, 2022 | 121 | 2022 |
Phenotypic spectrum and genetics of SCN2A‐related disorders, treatment options, and outcomes in epilepsy and beyond M Wolff, A Brunklaus, SM Zuberi Epilepsia 60, S59-S67, 2019 | 112 | 2019 |
Genotype phenotype associations across the voltage-gated sodium channel family A Brunklaus, R Ellis, E Reavey, C Semsarian, SM Zuberi Journal of medical genetics 51 (10), 650-658, 2014 | 104 | 2014 |
Anakinra usage in febrile infection related epilepsy syndrome: an international cohort YC Lai, E Muscal, E Wells, N Shukla, K Eschbach, K Hyeong Lee, ... Annals of clinical and translational neurology 7 (12), 2467-2474, 2020 | 103 | 2020 |
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications A Brunklaus, T Brünger, T Feng, C Fons, A Lehikoinen, E Panagiotakaki, ... Brain 145 (11), 3816-3831, 2022 | 93 | 2022 |
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice A Brunklaus, J Du, F Steckler, II Ghanty, KM Johannesen, CD Fenger, ... Epilepsia 61 (3), 387-399, 2020 | 88 | 2020 |
The clinical utility of an SCN1A genetic diagnosis in infantile‐onset epilepsy A Brunklaus, L Dorris, R Ellis, E Reavey, E Lee, G Forbes, R Appleton, ... Developmental Medicine & Child Neurology 55 (2), 154-161, 2013 | 86 | 2013 |