2025

Ghanty, Ismael, Perez-Palma, Eduardo, Villaman, Camilo, Stobo, Daniel, Symonds, Joseph, Zuberi, Sameer, Lal, Dennis and Brunklaus, Andreas (2025) SCN9A should not be considered an epilepsy gene; refuting a gene-disease association. Epilepsia, (doi: 10.1111/epi.18474) (Early Online Publication)

Mercier, Anthony, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Brunklaus, Andreas, Symonds, Joseph D., Zuberi, Sameer M., Finch, Teresa, Wilson, Galia and Eldred, Claire (2025) Trauma, coping, and adjustment when parenting a child with Dravet syndrome. European Journal of Paediatric Neurology, 54, pp. 96-106. (doi: 10.1016/j.ejpn.2025.01.002)

2024

Freeman-Jones, Erin, Wilson, Galia, Eldred, Claire, Mercier, Anthony, Hendry, Kirsty, Swindler, Adriana, Symonds, Joseph D., Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, 53, pp. 138-143. (doi: 10.1016/j.ejpn.2024.10.010) (PMID:39509951)

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, Sameer M., Wirrell, Elaine, Tinuper, Paolo and Nabbout, Rima (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)

Perry, M. S. et al. (2024) 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, 65(2), pp. 322-337. (doi: 10.1111/epi.17850) (PMID:38049202)

Feng, Tony, Makiello, Phoebe, Dunwoody, Benjamin, Steckler, Felix, Symonds, Joseph D. ORCID: https://orcid.org/0000-0002-2141-4216, Zuberi, Sameer, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas (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

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, Phoebe, Feng, Tony, Dunwoody, Benjamin, Steckler, Felix, Symonds, Joseph, Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas (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, Adam, Zuberi, Sameer M., Striano, Pasquale, Rosenow, Felix and Schubert-Bast, Susanne (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, Amy, Brunklaus, Andreas, Barcia, Giulia, Varadkar, Sophia, Zuberi, Sameer M., Chatron, Nicolas, Parrini, Elena, Mei, Davide, Nabbout, Rima and Lesca, Gaetan (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, Joseph, Deighton, Alison M., Vila, Maria Candida, Szabo, Shelagh M., Maru, Benit, Gofshteyn, Jacqueline S., James, Emma S., Rico, Salvador and Zuberi, Sameer 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, Elena, Auvin, Stéphane, Villanueva, Vicente, Cross, J Helen, Zuberi, Sameer M., Lagae, Lieven and Aibar, José Ángel (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, Liam ORCID: https://orcid.org/0000-0002-9502-3154, O'Regan, Mary, Wilson, Margaret and Zuberi, Sameer 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, Edouard, Caraballo, Roberto, Bernardina, Bernardo Dalla, Loddenkemper, Tobias and Zuberi, Sameer 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, Joseph D. and Zuberi, Sameer 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, Sameer M. and Brunklaus, Andreas (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, Dora, Symonds, Joseph D., Zuberi, Sameer M. and Brunklaus, Andreas (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

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

Jensen, Mark P., Brunklaus, Andreas, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Zuberi, Sameer M., Knupp, Kelly G., Galer, Bradley S. and Gammaitoni, Arnold 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, Joseph D., Zuberi, Sameer M. and Johnson, Michael 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, Joe, Zuberi, Sameer, Wilson, Margaret, Bumke, Kerstin, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Cobbs, Gavin (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, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J. and Cordeiro, Nuno (2015) Neuromyelitis optica in a child with Aicardi-GoutiEres syndrome. Neurology, 85(4), pp. 381-383. (doi: 10.1212/wnl.0000000000001792) (PMID:26136517)

Brunklaus, Andreas, Ellis, Rachael, Stewart, Helen, Aylett, Sarah, Reavey, Eleanor, Jefferson, Ros, Jain, Rakesh, Chakraborty, Supratik, Jayawant, Sandeep and Zuberi, Sameer 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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154 (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, Nathalie, Beghi, Ettore, Hesdorffer, Dale, Moshé, Solomon L., Zuberi, Sameer M., Medina, Marco T. and Bergen, Donna (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, Sameer 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, Mike, Linehan, Christine, Thompson, Rose, Mula, Marco, Gil-Nagal, Antonio, Zuberi, Sameer M. and Glynn, Mike (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, Andreas and Zuberi, Sameer 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. ORCID: https://orcid.org/0000-0002-9502-3154 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, Andreas, Ellis, Rachael, Reavey, Eleanor, Semsarian, Christopher and Zuberi, Sameer 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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154 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, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Zuberi, Sameer M., Scott, Nicola, Moffat, Catriona and McArthur, Irene (2008) Psychosocial and intellectual functioning in childhood narcolepsy. Developmental Neurorehabilitation, 11(3), pp. 187-194. (doi: 10.1080/17518420802011493) (PMID:18608355)

Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Scott, Nicola, Zuberi, Sameer, Gibson, Neil and Espie, Colin (2008) Sleep problems in children with neurological disorders. Developmental Neurorehabilitation, 11(2), pp. 95-114. (doi: 10.1080/17518420701860149)

2007

Davidson, Michelle, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, O’Regan, Mary and Zuberi, Sameer 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. ORCID: https://orcid.org/0000-0002-9502-3154, 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, Mary E., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Zuberi, Sameer M. and Wilson, Margaret (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. ORCID: https://orcid.org/0000-0002-9502-3154, 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, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Blair, Michael and Zuberi, Sameer (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

Ghanty, Ismael, Perez-Palma, Eduardo, Villaman, Camilo, Stobo, Daniel, Symonds, Joseph, Zuberi, Sameer, Lal, Dennis and Brunklaus, Andreas (2025) SCN9A should not be considered an epilepsy gene; refuting a gene-disease association. Epilepsia, (doi: 10.1111/epi.18474) (Early Online Publication)

Mercier, Anthony, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Brunklaus, Andreas, Symonds, Joseph D., Zuberi, Sameer M., Finch, Teresa, Wilson, Galia and Eldred, Claire (2025) Trauma, coping, and adjustment when parenting a child with Dravet syndrome. European Journal of Paediatric Neurology, 54, pp. 96-106. (doi: 10.1016/j.ejpn.2025.01.002)

Freeman-Jones, Erin, Wilson, Galia, Eldred, Claire, Mercier, Anthony, Hendry, Kirsty, Swindler, Adriana, Symonds, Joseph D., Zuberi, Sameer M., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Brunklaus, Andreas (2024) Caregiver burden and therapeutic needs in Dravet syndrome - a national UK cross-sectional questionnaire study. European Journal of Paediatric Neurology, 53, pp. 138-143. (doi: 10.1016/j.ejpn.2024.10.010) (PMID:39509951)

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, Sameer M., Wirrell, Elaine, Tinuper, Paolo and Nabbout, Rima (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)

Perry, M. S. et al. (2024) 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, 65(2), pp. 322-337. (doi: 10.1111/epi.17850) (PMID:38049202)

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Strzelczyk, Adam, Zuberi, Sameer M., Striano, Pasquale, Rosenow, Felix and Schubert-Bast, Susanne (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)

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McTague, Amy, Brunklaus, Andreas, Barcia, Giulia, Varadkar, Sophia, Zuberi, Sameer M., Chatron, Nicolas, Parrini, Elena, Mei, Davide, Nabbout, Rima and Lesca, Gaetan (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)

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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)

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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, Joseph, Deighton, Alison M., Vila, Maria Candida, Szabo, Shelagh M., Maru, Benit, Gofshteyn, Jacqueline S., James, Emma S., Rico, Salvador and Zuberi, Sameer 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, Elena, Auvin, Stéphane, Villanueva, Vicente, Cross, J Helen, Zuberi, Sameer M., Lagae, Lieven and Aibar, José Ángel (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, Liam ORCID: https://orcid.org/0000-0002-9502-3154, O'Regan, Mary, Wilson, Margaret and Zuberi, Sameer 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, Edouard, Caraballo, Roberto, Bernardina, Bernardo Dalla, Loddenkemper, Tobias and Zuberi, Sameer 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, Joseph D. and Zuberi, Sameer 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, Sameer M. and Brunklaus, Andreas (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, Dora, Symonds, Joseph D., Zuberi, Sameer M. and Brunklaus, Andreas (2017) Dravet syndrome and its mimics: beyond SCN1A. Epilepsia, 58(11), pp. 1807-1816. (doi: 10.1111/epi.13889) (PMID:28880996)

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

Jensen, Mark P., Brunklaus, Andreas, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Zuberi, Sameer M., Knupp, Kelly G., Galer, Bradley S. and Gammaitoni, Arnold 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, Joseph D., Zuberi, Sameer M. and Johnson, Michael 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, Yael, Zuberi, Sameer, Vincent, Angela, Crow, Yanick J. and Cordeiro, Nuno (2015) Neuromyelitis optica in a child with Aicardi-GoutiEres syndrome. Neurology, 85(4), pp. 381-383. (doi: 10.1212/wnl.0000000000001792) (PMID:26136517)

Brunklaus, Andreas, Ellis, Rachael, Stewart, Helen, Aylett, Sarah, Reavey, Eleanor, Jefferson, Ros, Jain, Rakesh, Chakraborty, Supratik, Jayawant, Sandeep and Zuberi, Sameer 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, Nathalie, Beghi, Ettore, Hesdorffer, Dale, Moshé, Solomon L., Zuberi, Sameer M., Medina, Marco T. and Bergen, Donna (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, Sameer 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, Mike, Linehan, Christine, Thompson, Rose, Mula, Marco, Gil-Nagal, Antonio, Zuberi, Sameer M. and Glynn, Mike (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, Andreas and Zuberi, Sameer 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, Andreas, Ellis, Rachael, Reavey, Eleanor, Semsarian, Christopher and Zuberi, Sameer 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. ORCID: https://orcid.org/0000-0002-9502-3154 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, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Zuberi, Sameer M., Scott, Nicola, Moffat, Catriona and McArthur, Irene (2008) Psychosocial and intellectual functioning in childhood narcolepsy. Developmental Neurorehabilitation, 11(3), pp. 187-194. (doi: 10.1080/17518420802011493) (PMID:18608355)

Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Scott, Nicola, Zuberi, Sameer, Gibson, Neil and Espie, Colin (2008) Sleep problems in children with neurological disorders. Developmental Neurorehabilitation, 11(2), pp. 95-114. (doi: 10.1080/17518420701860149)

Davidson, Michelle, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, O’Regan, Mary and Zuberi, Sameer 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, Joe, Zuberi, Sameer, Wilson, Margaret, Bumke, Kerstin, Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154 and Cobbs, Gavin (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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154 (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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154 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. ORCID: https://orcid.org/0000-0002-9502-3154, 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, Mary E., Dorris, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Zuberi, Sameer M. and Wilson, Margaret (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. ORCID: https://orcid.org/0000-0002-9502-3154, 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, Liam ORCID: https://orcid.org/0000-0002-9502-3154, Blair, Michael and Zuberi, Sameer (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)