2024

Freeman-Jones, E., Wilson, G., Eldred, C., Mercier, A., Hendry, K., Swindler, A., Symonds, J. D., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, (doi: 10.1016/j.ejpn.2024.10.010) (Early Online Publication)

Eyre, M. et al. (2024) Treatments and outcomes among patients with Sydenham chorea. JAMA Network Open, 7(4), e246792. (doi: 10.1001/jamanetworkopen.2024.6792) (PMID:38625703) (PMCID:PMC11022117)

Zuberi, S. M., Wirrell, E., Tinuper, P. and Nabbout, R. (2024) Response: Do all individuals with Dravet syndrome have intellectual disability? Epilepsia, (doi: 10.1111/epi.17919) (PMID:38597521)

Gallagher, D. et al. (2024) Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies. Epilepsia, 65(4), pp. 1046-1059. (doi: 10.1111/epi.17882) (PMID:38410936)

Feng, T., Makiello, P., Dunwoody, B., Steckler, F., Symonds, J. D. , Zuberi, S., Dorris, L. and Brunklaus, A. (2024) Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome. Brain Communications, 6(1), fcae004. (doi: 10.1093/braincomms/fcae004) (PMID:38229878) (PMCID:PMC10789590)

2023

Perry, M. S. et al. (2023) Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A + Dravet syndrome: Insights from the ENVISION natural history study. Epilepsia, (doi: 10.1111/epi.17850) (PMID:38049202) (Early Online Publication)

Owolabi, M. O. et al. (2023) Global synergistic actions to improve brain health for human development. Nature Reviews Neurology, 19, pp. 371-383. (doi: 10.1038/s41582-023-00808-z) (PMID:37208496) (PMCID:PMC10197060)

Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain, (doi: 10.1093/brain/awad111) (PMID:37006128) (Early Online Publication)

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, 64(4), pp. 1012-1020. (doi: 10.1111/epi.17531) (PMID:36740581)

Strzelczyk, A., Zuberi, S. M., Striano, P., Rosenow, F. and Schubert-Bast, S. (2023) The burden of illness in Lennox–Gastaut syndrome: a systematic literature review. Orphanet Journal of Rare Diseases, 18, 42. (doi: 10.1186/s13023-023-02626-4) (PMID:36859290) (PMCID:PMC9979426)

Brünger, T. et al. (2023) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146(3), pp. 923-934. (doi: 10.1093/brain/awac305) (PMID:36036558) (PMCID:PMC9976975)

2022

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145(12), pp. 4275-4286. (doi: 10.1093/brain/awac006) (PMID:35037686)

Guerrini, R. et al. (2022) An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: a report from the fenfluramine European Early Access Program. Epilepsia Open, 7(4), pp. 578-587. (doi: 10.1002/epi4.12624) (PMID:35801621) (PMCID:PMC9712464)

Brunklaus, A. et al. (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145(11), pp. 3816-3831. (doi: 10.1093/brain/awac210) (PMID:35696452)

McTague, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R. and Lesca, G. (2022) Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics, 65(7), 104531. (doi: 10.1016/j.ejmg.2022.104531) (PMID:35618197)

Amin, S. et al. (2022) International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder. Frontiers in Neurology, 13, 874695. (doi: 10.3389/fneur.2022.874695) (PMID:35795799) (PMCID:PMC9251467)

Hirsch, E. et al. (2022) ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1475-1499. (doi: 10.1111/epi.17236) (PMID:35503716)

Riney, K. et al. (2022) International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1443-1474. (doi: 10.1111/epi.17240) (PMID:35503725)

Specchio, N. et al. (2022) International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1398-1442. (doi: 10.1111/epi.17241) (PMID:35503717)

Wirrell, E. C. et al. (2022) Methodology for classification and definition of epilepsy syndromes with list of syndromes: report of the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1333-1348. (doi: 10.1111/epi.17237) (PMID:35503715)

Zuberi, S. M. et al. (2022) ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1349-1397. (doi: 10.1111/epi.17239) (PMID:35503712)

Sullivan, J., Deighton, A. M., Vila, M. C., Szabo, S. M., Maru, B., Gofshteyn, J. S., James, E. S., Rico, S. and Zuberi, S. M. (2022) The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review. Epilepsy and Behavior, 130, 108661. (doi: 10.1016/j.yebeh.2022.108661) (PMID:35334258)

Brunklaus, A. et al. (2022) Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology, 98(11), e1163-e1174. (doi: 10.1212/WNL.0000000000200028) (PMID:35074891)

Cardenal‐Muñoz, E., Auvin, S., Villanueva, V., Cross, J. H., Zuberi, S. M., Lagae, L. and Aibar, J. Á. (2022) Guidance on Dravet syndrome from infant to adult care: road map for treatment planning in Europe. Epilepsia Open, 7(1), pp. 11-26. (doi: 10.1002/epi4.12569) (PMID:34882995) (PMCID:PMC8886070)

2021

Marson, A. et al. (2021) The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial. Lancet, 397(10282), pp. 1363-1374. (doi: 10.1016/S0140-6736(21)00247-6) (PMID:33838757) (PMCID:PMC8047799)

Marson, A. et al. (2021) The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial. Lancet, 397(10282), pp. 1375-1386. (doi: 10.1016/S0140-6736(21)00246-4) (PMID:33838758) (PMCID:PMC8047813)

Symonds, J. et al. (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 144(9), pp. 2879-2891. (doi: 10.1093/brain/awab162)

2020

Symonds, J. D. et al. (2020) Neuronal antibody prevalence in children with seizures under 3 years: a prospective national cohort. Neurology, 95(11), e1590-e1598. (doi: 10.1212/WNL.0000000000010318) (PMID:32690789)

2019

Symonds, J. D. et al. (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 142(8), pp. 2303-2318. (doi: 10.1093/brain/awz195) (PMID:31302675) (PMCID:PMC6658850)

Dorris, L. , O'Regan, M., Wilson, M. and Zuberi, S. M. (2019) Progressive intellectual impairment in children with encephalopathy related to status epilepticus during slow sleep. Epileptic Disorders, 21(S1), pp. 88-96. (doi: 10.1684/epd.2019.1063) (PMID:31180329)

Fisher, R. S. et al. (2019) 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction. Epilepsia, 60(6), pp. 1040-1044. (doi: 10.1111/epi.15052) (PMID:31074833)

Hirsch, E., Caraballo, R., Bernardina, B. D., Loddenkemper, T. and Zuberi, S. M. (2019) Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to terminology. Epileptic Disorders, 21(S1), S5-S12. (doi: 10.1684/epd.2019.1051) (PMID:31149900)

2018

Devinsky, O. et al. (2018) Effect of cannabidiol on drop seizures in the Lennox–Gastaut syndrome. New England Journal of Medicine, 378(20), pp. 1888-1897. (doi: 10.1056/nejmoa1714631) (PMID:29768152)

Snijders Blok, L. et al. (2018) De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics, 137(5), pp. 375-388. (doi: 10.1007/s00439-018-1887-y) (PMID:29740699) (PMCID:PMC5973976)

Symonds, J. D. and Zuberi, S. M. (2018) Genetics update: monogenetics, polygene disorders and the quest for modifying genes. Neuropharmacology, 132, pp. 3-19. (doi: 10.1016/j.neuropharm.2017.10.013) (PMID:29037745)

Zuberi, S. M. and Brunklaus, A. (2018) Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Reviews Neurology, 14(2), pp. 67-68. (doi: 10.1038/nrneurol.2017.190) (PMID:29348546)

Dorris, L. et al. (2018) Early Neurodevelopmental Profiles and Family Impact in Newly Diagnosed Epilepsy: Findings from a 3-year Prospective Cohort. British Paediatric Neurology Association Annual Meeting, London, UK, 3-5 Jan 2018. (doi: 10.1111/dmcn.13622)

2017

Steel, D., Symonds, J. D., Zuberi, S. M. and Brunklaus, A. (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Zuberi, S. M. and Striano, P. (2017) The "plus" side of epilepsy phenotyping. Neurology, 89(12), pp. 1202-1203. (doi: 10.1212/WNL.0000000000004399)

Jensen, M. P., Brunklaus, A., Dorris, L. , Zuberi, S. M., Knupp, K. G., Galer, B. S. and Gammaitoni, A. R. (2017) The humanistic and economic burden of Dravet syndrome on caregivers and families: implications for future research. Epilepsy and Behavior, 70(A), pp. 104-109. (doi: 10.1016/j.yebeh.2017.02.003) (PMID:28431364)

Fisher, R. S. et al. (2017) Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia, 58(4), pp. 531-542. (doi: 10.1111/epi.13671) (PMID:28276064)

Fisher, R. S. et al. (2017) Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 58(4), pp. 522-530. (doi: 10.1111/epi.13670) (PMID:28276060)

Scheffer, I. E. et al. (2017) ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 58(4), pp. 512-521. (doi: 10.1111/epi.13709) (PMID:28276062)

Symonds, J. D. et al. (2017) Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia, 58(4), pp. 565-575. (doi: 10.1111/epi.13669) (PMID:28166369)

Symonds, J. D., Zuberi, S. M. and Johnson, M. R. (2017) Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment. Current Opinion in Neurology, 30(2), pp. 193-199. (doi: 10.1097/WCO.0000000000000433) (PMID:28212175)

2016

Scheffer, I. E. et al. (2016) Classification of the epilepsies: new concepts for discussion and debate-special report of the ILAE Classification Task Force of the Commission for Classification and Terminology. Epilepsia Open, 1(1-2), pp. 37-44. (doi: 10.1002/epi4.5) (PMID:29588927) (PMCID:PMC5867836)

2015

Symonds, J., Zuberi, S., Wilson, M., Bumke, K., Dorris, L. and Cobbs, G. (2015) A Family with Steroid-responsive Autism. Scottish Paediatric Society St Andrew’s Day Paediatric Symposium, Edinburgh, UK, 27 Nov 2015. NP35. (doi: 10.1177/0036933016639797)

Hacohen, Y., Zuberi, S., Vincent, A., Crow, Y. J. and Cordeiro, N. (2015) Neuromyelitis optica in a child with Aicardi-GoutiEres syndrome. Neurology, 85(4), pp. 381-383. (doi: 10.1212/wnl.0000000000001792) (PMID:26136517)

Brunklaus, A., Ellis, R., Stewart, H., Aylett, S., Reavey, E., Jefferson, R., Jain, R., Chakraborty, S., Jayawant, S. and Zuberi, S. M. (2015) Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. European Journal of Paediatric Neurology, 19(4), pp. 484-488. (doi: 10.1016/j.ejpn.2015.02.001) (PMID:25795284)

Babiker, M.O.E., Grattan, R., MacLeod, S., Dorris, L. and Zuberi, S.M. (2015) Chronic and Relapsing Paediatric Anti-NMDAR Encephalitis: Two Cases and a Literature Review. 11th EPNS Congress, Vienna, Austria, 27-30 May 2015. S85. (doi: 10.1016/S1090-3798(15)30281-6)

Pownall, J., Thomson, A., Fisk, C., Adey, C., MacLeod, S., Horrocks, I., Zuberi, S.M. and Dorris, L. (2015) Neuropsychological Outcomes at Disease Onset and One Year Follow-up in a Case Series of Children with Autoimmune Encephalopathies. 11th EPNS Congress, Vienna, Austria, 27-30 May 2015. S110. (doi: 10.1016/S1090-3798(15)30371-8)

Jette, N., Beghi, E., Hesdorffer, D., Moshé, S. L., Zuberi, S. M., Medina, M. T. and Bergen, D. (2015) ICD coding for epilepsy: past, present, and future: a report by the international league against epilepsy task force on ICD codes in epilepsy. Epilepsia, 56(3), pp. 348-355. (doi: 10.1111/epi.12895) (PMID:25684068)

Zuberi, S. M. (2015) Chipping away at the channels: can we fashion a syndrome? Neurology, 84(5), pp. 446-447. (doi: 10.1212/WNL.0000000000001219) (PMID:25568293)

Crow, Y. J. et al. (2015) Characterization of human disease phenotypes associated with mutations in TREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, and IFIH1. American Journal of Medical Genetics Part A, 167(2), pp. 296-312. (doi: 10.1002/ajmg.a.36887) (PMID:25604658)

2014

Kerr, M., Linehan, C., Thompson, R., Mula, M., Gil-Nagal, A., Zuberi, S. M. and Glynn, M. (2014) A White Paper on the medical and social needs of people with epilepsy and intellectual disability: The Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy. Epilepsia, 55(12), pp. 1902-1906. (doi: 10.1111/epi.12848)

Brunklaus, A. and Zuberi, S. M. (2014) Dravet syndrome-from epileptic encephalopathy to channelopathy. Epilepsia, 55(7), pp. 979-984. (doi: 10.1111/epi.12652)

Holton, R., Callaghan, F.O., Leipold, A., Hiles, A., Zuberi, S., Dorris, L. and Wright, I. (2014) Developmental Characteristics of Sleep-related Consolidation of Learning. 4th UK Paediatric Neuropsychology Symposium: Atypical Developmental Pathways, London, UK, 19-23 May 2014. pp. 7-23. (doi: 10.1111/dmcn.12460)

Rice, G. I. et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nature Genetics, 46(5), pp. 503-509. (doi: 10.1038/ng.2933) (PMID:24686847) (PMCID:PMC4004585)

Brunklaus, A., Ellis, R., Reavey, E., Semsarian, C. and Zuberi, S. M. (2014) Genotype phenotype associations across the voltage-gated sodium channel family. Journal of Medical Genetics, 51(10), pp. 650-658. (doi: 10.1136/jmedgenet-2014-102608)

2013

Babiker, M.O.E., Addison, R., Thomson, A., MacLeod, S., O'Regan, M.E., Callaghan, M., Dorris, L. and Zuberi, S.M. (2013) Outcomes in Paediatric Anti-NMDA Receptor Encephalitis with Early Aggressive Immunotherapy Including Rituximab. Annual Meeting of the British Paediatric Neurology Association, Manchester, UK, 23-25 Jan 2013. pp. 17-33. (doi: 10.1111/dmcn.12068)

2012

Brunklaus, A., Pohl, K., Zuberi, S. and de Sousa, C. (2012) Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome. Archives of Disease in Childhood, 97(5), pp. 461-463. (doi: 10.1136/adc.2010.204792)

Brunklaus, A., Ellis, R., Reavey, E., Forbes, G.H. and Zuberi, S. (2012) Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain, 135(8), pp. 2329-2336. (doi: 10.1093/brain/aws151)

Carta, E. et al. (2012) Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. Journal of Biological Chemistry, 287(34), pp. 28975-28985. (doi: 10.1074/jbc.M112.372094)

Heron, S.E. et al. (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), pp. 152-160. (doi: 10.1016/j.ajhg.2011.12.003)

2011

Brunklaus, A., Dorris, L. and Zuberi, S.M. (2011) Comorbidities and predictors of health-related quality of life in Dravet syndrome. Epilepsia, 52(8), pp. 1476-1482. (doi: 10.1111/j.1528-1167.2011.03129.x)

Zuberi, S., Brunklaus, A., Birch, R., Reavey, E., Duncan, J. and Forbes, G.H. (2011) Genotype-phenotype associations in SCN1A-related epilepsies. Neurology, 76(7), pp. 594-600. (doi: 10.1212/WNL.0b013e31820c309b)

Brunklaus, A., Dorris, L. and Zuberi, S.M. (2011) Assessment and Predictors of Health-related Quality of Life in Dravet Syndrome. Annual Meeting of the British Paediatric Neurology Association, Edinburgh, UK, 26-28 Jan 2011. pp. 15-16. (doi: 10.1111/j.1469-8749.2010.03863.x)

2008

Dorris, L. , Zuberi, S. M., Scott, N., Moffat, C. and McArthur, I. (2008) Psychosocial and intellectual functioning in childhood narcolepsy. Developmental Neurorehabilitation, 11(3), pp. 187-194. (doi: 10.1080/17518420802011493) (PMID:18608355)

Dorris, L. , Scott, N., Zuberi, S., Gibson, N. and Espie, C. (2008) Sleep problems in children with neurological disorders. Developmental Neurorehabilitation, 11(2), pp. 95-114. (doi: 10.1080/17518420701860149)

2007

Davidson, M., Dorris, L. , O’Regan, M. and Zuberi, S. M. (2007) Memory consolidation and accelerated forgetting in children with idiopathic generalized epilepsy. Epilepsy and Behavior, 11(3), pp. 394-400. (doi: 10.1016/j.yebeh.2007.05.004) (PMID:17715001)

2004

Dorris, L. , Moffat, C., McArthur, I. and Zuberi, S.M. (2004) Childhood Narcolepsy: A Quantitative Study of Psychosocial and Cognitive Outcomes. 17th Congress of the European Sleep Research Society, Prague. Czech Republic, 5-9 Oct 2004. pp. 1-832. (doi: 10.1111/j.1365-2869.2004.00410.x)

2003

O'Regan, M. E., Dorris, L. , Zuberi, S. M. and Wilson, M. (2003) Prevalence, Aetiology, Treatment, and Outcome of a Cohort of Children with Electrical Status in Slow Sleep (ESES). Annual Meeting of the American Epilepsy Society, Boston, MA, USA, 5-10 Dec 2003. (doi: 10.1046/j.1528-1157.44.s9.5.x)

Wilson, M.T., Reidpath, H., Robertson, A., Dorris, L. , Zuberi, S.M. and O'Regan, M.E. (2003) Aetiology, Treatment and Outcome of Electrical Status Epilepticus in Sleep. 15th Annual Meeting of the European Academy of Childhood Disability (EACD), Oslo, Norway, 2-4 Oct 2003. (doi: 10.1111/j.1469-8749.2003.tb04660.x)

2001

Dorris, L. , Blair, M. and Zuberi, S. (2001) The Role of the Neuropsychologist in the Assessment and Management of a 13-Year-Old Girl with Hashimoto’s Encephalopathy. 27th Annual BPNA Scientific Meeting, 2001. (doi: 10.1111/j.1469-8749.2000.tb08309.x)

Articles

Freeman-Jones, E., Wilson, G., Eldred, C., Mercier, A., Hendry, K., Swindler, A., Symonds, J. D., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, (doi: 10.1016/j.ejpn.2024.10.010) (Early Online Publication)

Eyre, M. et al. (2024) Treatments and outcomes among patients with Sydenham chorea. JAMA Network Open, 7(4), e246792. (doi: 10.1001/jamanetworkopen.2024.6792) (PMID:38625703) (PMCID:PMC11022117)

Zuberi, S. M., Wirrell, E., Tinuper, P. and Nabbout, R. (2024) Response: Do all individuals with Dravet syndrome have intellectual disability? Epilepsia, (doi: 10.1111/epi.17919) (PMID:38597521)

Gallagher, D. et al. (2024) Genotype–phenotype associations in 1018 individuals with SCN1A‐related epilepsies. Epilepsia, 65(4), pp. 1046-1059. (doi: 10.1111/epi.17882) (PMID:38410936)

Feng, T., Makiello, P., Dunwoody, B., Steckler, F., Symonds, J. D. , Zuberi, S., Dorris, L. and Brunklaus, A. (2024) Long-term predictors of developmental outcome and disease burden in SCN1A-positive Dravet syndrome. Brain Communications, 6(1), fcae004. (doi: 10.1093/braincomms/fcae004) (PMID:38229878) (PMCID:PMC10789590)

Perry, M. S. et al. (2023) Severe communication delays are independent of seizure burden and persist despite contemporary treatments in SCN1A + Dravet syndrome: Insights from the ENVISION natural history study. Epilepsia, (doi: 10.1111/epi.17850) (PMID:38049202) (Early Online Publication)

Owolabi, M. O. et al. (2023) Global synergistic actions to improve brain health for human development. Nature Reviews Neurology, 19, pp. 371-383. (doi: 10.1038/s41582-023-00808-z) (PMID:37208496) (PMCID:PMC10197060)

Martins Custodio, H. et al. (2023) Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’ condition. Brain, (doi: 10.1093/brain/awad111) (PMID:37006128) (Early Online Publication)

Makiello, P., Feng, T., Dunwoody, B., Steckler, F., Symonds, J., Zuberi, S. M., Dorris, L. and Brunklaus, A. (2023) Comorbidities and predictors of health-related quality of life in Dravet syndrome: a ten-year prospective follow- up study. Epilepsia, 64(4), pp. 1012-1020. (doi: 10.1111/epi.17531) (PMID:36740581)

Strzelczyk, A., Zuberi, S. M., Striano, P., Rosenow, F. and Schubert-Bast, S. (2023) The burden of illness in Lennox–Gastaut syndrome: a systematic literature review. Orphanet Journal of Rare Diseases, 18, 42. (doi: 10.1186/s13023-023-02626-4) (PMID:36859290) (PMCID:PMC9979426)

Brünger, T. et al. (2023) Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes. Brain, 146(3), pp. 923-934. (doi: 10.1093/brain/awac305) (PMID:36036558) (PMCID:PMC9976975)

Brunklaus, A. et al. (2022) Gene variant effects across sodium channelopathies predict function and guide precision therapy. Brain, 145(12), pp. 4275-4286. (doi: 10.1093/brain/awac006) (PMID:35037686)

Guerrini, R. et al. (2022) An examination of the efficacy and safety of fenfluramine in adults, children, and adolescents with Dravet syndrome in a real-world practice setting: a report from the fenfluramine European Early Access Program. Epilepsia Open, 7(4), pp. 578-587. (doi: 10.1002/epi4.12624) (PMID:35801621) (PMCID:PMC9712464)

Brunklaus, A. et al. (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain, 145(11), pp. 3816-3831. (doi: 10.1093/brain/awac210) (PMID:35696452)

McTague, A., Brunklaus, A., Barcia, G., Varadkar, S., Zuberi, S. M., Chatron, N., Parrini, E., Mei, D., Nabbout, R. and Lesca, G. (2022) Defining causal variants in rare epilepsies: an essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics, 65(7), 104531. (doi: 10.1016/j.ejmg.2022.104531) (PMID:35618197)

Amin, S. et al. (2022) International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder. Frontiers in Neurology, 13, 874695. (doi: 10.3389/fneur.2022.874695) (PMID:35795799) (PMCID:PMC9251467)

Hirsch, E. et al. (2022) ILAE definition of the idiopathic generalized epilepsy syndromes: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1475-1499. (doi: 10.1111/epi.17236) (PMID:35503716)

Riney, K. et al. (2022) International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1443-1474. (doi: 10.1111/epi.17240) (PMID:35503725)

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Zuberi, S. M. et al. (2022) ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia, 63(6), pp. 1349-1397. (doi: 10.1111/epi.17239) (PMID:35503712)

Sullivan, J., Deighton, A. M., Vila, M. C., Szabo, S. M., Maru, B., Gofshteyn, J. S., James, E. S., Rico, S. and Zuberi, S. M. (2022) The clinical, economic, and humanistic burden of Dravet syndrome – A systematic literature review. Epilepsy and Behavior, 130, 108661. (doi: 10.1016/j.yebeh.2022.108661) (PMID:35334258)

Brunklaus, A. et al. (2022) Development and validation of a prediction model for early diagnosis of SCN1A-related epilepsies. Neurology, 98(11), e1163-e1174. (doi: 10.1212/WNL.0000000000200028) (PMID:35074891)

Cardenal‐Muñoz, E., Auvin, S., Villanueva, V., Cross, J. H., Zuberi, S. M., Lagae, L. and Aibar, J. Á. (2022) Guidance on Dravet syndrome from infant to adult care: road map for treatment planning in Europe. Epilepsia Open, 7(1), pp. 11-26. (doi: 10.1002/epi4.12569) (PMID:34882995) (PMCID:PMC8886070)

Marson, A. et al. (2021) The SANAD II study of the effectiveness and cost-effectiveness of levetiracetam, zonisamide, or lamotrigine for newly diagnosed focal epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial. Lancet, 397(10282), pp. 1363-1374. (doi: 10.1016/S0140-6736(21)00247-6) (PMID:33838757) (PMCID:PMC8047799)

Marson, A. et al. (2021) The SANAD II study of the effectiveness and cost-effectiveness of valproate versus levetiracetam for newly diagnosed generalised and unclassifiable epilepsy: an open-label, non-inferiority, multicentre, phase 4, randomised controlled trial. Lancet, 397(10282), pp. 1375-1386. (doi: 10.1016/S0140-6736(21)00246-4) (PMID:33838758) (PMCID:PMC8047813)

Symonds, J. et al. (2021) Early childhood epilepsies: epidemiology, classification, aetiology, and socio-economic determinants. Brain, 144(9), pp. 2879-2891. (doi: 10.1093/brain/awab162)

Symonds, J. D. et al. (2020) Neuronal antibody prevalence in children with seizures under 3 years: a prospective national cohort. Neurology, 95(11), e1590-e1598. (doi: 10.1212/WNL.0000000000010318) (PMID:32690789)

Symonds, J. D. et al. (2019) Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort. Brain, 142(8), pp. 2303-2318. (doi: 10.1093/brain/awz195) (PMID:31302675) (PMCID:PMC6658850)

Dorris, L. , O'Regan, M., Wilson, M. and Zuberi, S. M. (2019) Progressive intellectual impairment in children with encephalopathy related to status epilepticus during slow sleep. Epileptic Disorders, 21(S1), pp. 88-96. (doi: 10.1684/epd.2019.1063) (PMID:31180329)

Fisher, R. S. et al. (2019) 2017 International League Against Epilepsy classifications of seizures and epilepsy are steps in the right direction. Epilepsia, 60(6), pp. 1040-1044. (doi: 10.1111/epi.15052) (PMID:31074833)

Hirsch, E., Caraballo, R., Bernardina, B. D., Loddenkemper, T. and Zuberi, S. M. (2019) Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to terminology. Epileptic Disorders, 21(S1), S5-S12. (doi: 10.1684/epd.2019.1051) (PMID:31149900)

Devinsky, O. et al. (2018) Effect of cannabidiol on drop seizures in the Lennox–Gastaut syndrome. New England Journal of Medicine, 378(20), pp. 1888-1897. (doi: 10.1056/nejmoa1714631) (PMID:29768152)

Snijders Blok, L. et al. (2018) De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. Human Genetics, 137(5), pp. 375-388. (doi: 10.1007/s00439-018-1887-y) (PMID:29740699) (PMCID:PMC5973976)

Symonds, J. D. and Zuberi, S. M. (2018) Genetics update: monogenetics, polygene disorders and the quest for modifying genes. Neuropharmacology, 132, pp. 3-19. (doi: 10.1016/j.neuropharm.2017.10.013) (PMID:29037745)

Zuberi, S. M. and Brunklaus, A. (2018) Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nature Reviews Neurology, 14(2), pp. 67-68. (doi: 10.1038/nrneurol.2017.190) (PMID:29348546)

Steel, D., Symonds, J. D., Zuberi, S. M. and Brunklaus, A. (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

Zuberi, S. M. and Striano, P. (2017) The "plus" side of epilepsy phenotyping. Neurology, 89(12), pp. 1202-1203. (doi: 10.1212/WNL.0000000000004399)

Jensen, M. P., Brunklaus, A., Dorris, L. , Zuberi, S. M., Knupp, K. G., Galer, B. S. and Gammaitoni, A. R. (2017) The humanistic and economic burden of Dravet syndrome on caregivers and families: implications for future research. Epilepsy and Behavior, 70(A), pp. 104-109. (doi: 10.1016/j.yebeh.2017.02.003) (PMID:28431364)

Fisher, R. S. et al. (2017) Instruction manual for the ILAE 2017 operational classification of seizure types. Epilepsia, 58(4), pp. 531-542. (doi: 10.1111/epi.13671) (PMID:28276064)

Fisher, R. S. et al. (2017) Operational classification of seizure types by the International League Against Epilepsy: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 58(4), pp. 522-530. (doi: 10.1111/epi.13670) (PMID:28276060)

Scheffer, I. E. et al. (2017) ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia, 58(4), pp. 512-521. (doi: 10.1111/epi.13709) (PMID:28276062)

Symonds, J. D. et al. (2017) Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases. Epilepsia, 58(4), pp. 565-575. (doi: 10.1111/epi.13669) (PMID:28166369)

Symonds, J. D., Zuberi, S. M. and Johnson, M. R. (2017) Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment. Current Opinion in Neurology, 30(2), pp. 193-199. (doi: 10.1097/WCO.0000000000000433) (PMID:28212175)

Scheffer, I. E. et al. (2016) Classification of the epilepsies: new concepts for discussion and debate-special report of the ILAE Classification Task Force of the Commission for Classification and Terminology. Epilepsia Open, 1(1-2), pp. 37-44. (doi: 10.1002/epi4.5) (PMID:29588927) (PMCID:PMC5867836)

Hacohen, Y., Zuberi, S., Vincent, A., Crow, Y. J. and Cordeiro, N. (2015) Neuromyelitis optica in a child with Aicardi-GoutiEres syndrome. Neurology, 85(4), pp. 381-383. (doi: 10.1212/wnl.0000000000001792) (PMID:26136517)

Brunklaus, A., Ellis, R., Stewart, H., Aylett, S., Reavey, E., Jefferson, R., Jain, R., Chakraborty, S., Jayawant, S. and Zuberi, S. M. (2015) Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families. European Journal of Paediatric Neurology, 19(4), pp. 484-488. (doi: 10.1016/j.ejpn.2015.02.001) (PMID:25795284)

Jette, N., Beghi, E., Hesdorffer, D., Moshé, S. L., Zuberi, S. M., Medina, M. T. and Bergen, D. (2015) ICD coding for epilepsy: past, present, and future: a report by the international league against epilepsy task force on ICD codes in epilepsy. Epilepsia, 56(3), pp. 348-355. (doi: 10.1111/epi.12895) (PMID:25684068)

Zuberi, S. M. (2015) Chipping away at the channels: can we fashion a syndrome? Neurology, 84(5), pp. 446-447. (doi: 10.1212/WNL.0000000000001219) (PMID:25568293)

Crow, Y. J. et al. (2015) Characterization of human disease phenotypes associated with mutations in TREX1,RNASEH2A,RNASEH2B,RNASEH2C,SAMHD1,ADAR, and IFIH1. American Journal of Medical Genetics Part A, 167(2), pp. 296-312. (doi: 10.1002/ajmg.a.36887) (PMID:25604658)

Kerr, M., Linehan, C., Thompson, R., Mula, M., Gil-Nagal, A., Zuberi, S. M. and Glynn, M. (2014) A White Paper on the medical and social needs of people with epilepsy and intellectual disability: The Task Force on Intellectual Disabilities and Epilepsy of the International League Against Epilepsy. Epilepsia, 55(12), pp. 1902-1906. (doi: 10.1111/epi.12848)

Brunklaus, A. and Zuberi, S. M. (2014) Dravet syndrome-from epileptic encephalopathy to channelopathy. Epilepsia, 55(7), pp. 979-984. (doi: 10.1111/epi.12652)

Rice, G. I. et al. (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nature Genetics, 46(5), pp. 503-509. (doi: 10.1038/ng.2933) (PMID:24686847) (PMCID:PMC4004585)

Brunklaus, A., Ellis, R., Reavey, E., Semsarian, C. and Zuberi, S. M. (2014) Genotype phenotype associations across the voltage-gated sodium channel family. Journal of Medical Genetics, 51(10), pp. 650-658. (doi: 10.1136/jmedgenet-2014-102608)

Brunklaus, A., Pohl, K., Zuberi, S. and de Sousa, C. (2012) Investigating neuroblastoma in childhood opsoclonus-myoclonus syndrome. Archives of Disease in Childhood, 97(5), pp. 461-463. (doi: 10.1136/adc.2010.204792)

Brunklaus, A., Ellis, R., Reavey, E., Forbes, G.H. and Zuberi, S. (2012) Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome. Brain, 135(8), pp. 2329-2336. (doi: 10.1093/brain/aws151)

Carta, E. et al. (2012) Mutations in the GlyT2 gene (SLC6A5) are a second major cause of startle disease. Journal of Biological Chemistry, 287(34), pp. 28975-28985. (doi: 10.1074/jbc.M112.372094)

Heron, S.E. et al. (2012) PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. American Journal of Human Genetics, 90(1), pp. 152-160. (doi: 10.1016/j.ajhg.2011.12.003)

Brunklaus, A., Dorris, L. and Zuberi, S.M. (2011) Comorbidities and predictors of health-related quality of life in Dravet syndrome. Epilepsia, 52(8), pp. 1476-1482. (doi: 10.1111/j.1528-1167.2011.03129.x)

Zuberi, S., Brunklaus, A., Birch, R., Reavey, E., Duncan, J. and Forbes, G.H. (2011) Genotype-phenotype associations in SCN1A-related epilepsies. Neurology, 76(7), pp. 594-600. (doi: 10.1212/WNL.0b013e31820c309b)

Dorris, L. , Zuberi, S. M., Scott, N., Moffat, C. and McArthur, I. (2008) Psychosocial and intellectual functioning in childhood narcolepsy. Developmental Neurorehabilitation, 11(3), pp. 187-194. (doi: 10.1080/17518420802011493) (PMID:18608355)

Dorris, L. , Scott, N., Zuberi, S., Gibson, N. and Espie, C. (2008) Sleep problems in children with neurological disorders. Developmental Neurorehabilitation, 11(2), pp. 95-114. (doi: 10.1080/17518420701860149)

Davidson, M., Dorris, L. , O’Regan, M. and Zuberi, S. M. (2007) Memory consolidation and accelerated forgetting in children with idiopathic generalized epilepsy. Epilepsy and Behavior, 11(3), pp. 394-400. (doi: 10.1016/j.yebeh.2007.05.004) (PMID:17715001)

Conference or Workshop Item

Dorris, L. et al. (2018) Early Neurodevelopmental Profiles and Family Impact in Newly Diagnosed Epilepsy: Findings from a 3-year Prospective Cohort. British Paediatric Neurology Association Annual Meeting, London, UK, 3-5 Jan 2018. (doi: 10.1111/dmcn.13622)

Symonds, J., Zuberi, S., Wilson, M., Bumke, K., Dorris, L. and Cobbs, G. (2015) A Family with Steroid-responsive Autism. Scottish Paediatric Society St Andrew’s Day Paediatric Symposium, Edinburgh, UK, 27 Nov 2015. NP35. (doi: 10.1177/0036933016639797)

Babiker, M.O.E., Grattan, R., MacLeod, S., Dorris, L. and Zuberi, S.M. (2015) Chronic and Relapsing Paediatric Anti-NMDAR Encephalitis: Two Cases and a Literature Review. 11th EPNS Congress, Vienna, Austria, 27-30 May 2015. S85. (doi: 10.1016/S1090-3798(15)30281-6)

Pownall, J., Thomson, A., Fisk, C., Adey, C., MacLeod, S., Horrocks, I., Zuberi, S.M. and Dorris, L. (2015) Neuropsychological Outcomes at Disease Onset and One Year Follow-up in a Case Series of Children with Autoimmune Encephalopathies. 11th EPNS Congress, Vienna, Austria, 27-30 May 2015. S110. (doi: 10.1016/S1090-3798(15)30371-8)

Holton, R., Callaghan, F.O., Leipold, A., Hiles, A., Zuberi, S., Dorris, L. and Wright, I. (2014) Developmental Characteristics of Sleep-related Consolidation of Learning. 4th UK Paediatric Neuropsychology Symposium: Atypical Developmental Pathways, London, UK, 19-23 May 2014. pp. 7-23. (doi: 10.1111/dmcn.12460)

Babiker, M.O.E., Addison, R., Thomson, A., MacLeod, S., O'Regan, M.E., Callaghan, M., Dorris, L. and Zuberi, S.M. (2013) Outcomes in Paediatric Anti-NMDA Receptor Encephalitis with Early Aggressive Immunotherapy Including Rituximab. Annual Meeting of the British Paediatric Neurology Association, Manchester, UK, 23-25 Jan 2013. pp. 17-33. (doi: 10.1111/dmcn.12068)

Brunklaus, A., Dorris, L. and Zuberi, S.M. (2011) Assessment and Predictors of Health-related Quality of Life in Dravet Syndrome. Annual Meeting of the British Paediatric Neurology Association, Edinburgh, UK, 26-28 Jan 2011. pp. 15-16. (doi: 10.1111/j.1469-8749.2010.03863.x)

Dorris, L. , Moffat, C., McArthur, I. and Zuberi, S.M. (2004) Childhood Narcolepsy: A Quantitative Study of Psychosocial and Cognitive Outcomes. 17th Congress of the European Sleep Research Society, Prague. Czech Republic, 5-9 Oct 2004. pp. 1-832. (doi: 10.1111/j.1365-2869.2004.00410.x)

O'Regan, M. E., Dorris, L. , Zuberi, S. M. and Wilson, M. (2003) Prevalence, Aetiology, Treatment, and Outcome of a Cohort of Children with Electrical Status in Slow Sleep (ESES). Annual Meeting of the American Epilepsy Society, Boston, MA, USA, 5-10 Dec 2003. (doi: 10.1046/j.1528-1157.44.s9.5.x)

Wilson, M.T., Reidpath, H., Robertson, A., Dorris, L. , Zuberi, S.M. and O'Regan, M.E. (2003) Aetiology, Treatment and Outcome of Electrical Status Epilepticus in Sleep. 15th Annual Meeting of the European Academy of Childhood Disability (EACD), Oslo, Norway, 2-4 Oct 2003. (doi: 10.1111/j.1469-8749.2003.tb04660.x)

Dorris, L. , Blair, M. and Zuberi, S. (2001) The Role of the Neuropsychologist in the Assessment and Management of a 13-Year-Old Girl with Hashimoto’s Encephalopathy. 27th Annual BPNA Scientific Meeting, 2001. (doi: 10.1111/j.1469-8749.2000.tb08309.x)