Research

Neurological Channelopathies 

In Professor Zuberi's MD thesis he described the clinical work he has undertaken defining phenotypes and genetic aetiologies of this emerging group of disorders. Detailed phenotyping is the first essential step in characterising new aspects of these genetic disorders. Professor Zuberi has collaborated closely with molecular geneticists and cell physiologists in units around the world exchanging ideas in order to better understand the mechanisms of disease and translate this into better patient care. This translational research has resulted in many peer reviewed publications and several book chapters. The main themes covered in the thesis are episodic ataxias type 1 and 2 (EA1 & 2), benign familial neonatal convulsions, autosomal dominant nocturnal frontal lobe epilepsy, Dravet Syndrome and SCN1A related epileptic encephalopathies. In the course of this work Professor Zuberi described novel relationships between EA1 and EA2 and epilepsy, described novel phenotypes with novel genes associated with frontal lobe epilepsy, a novel presentation of a potassium channelopathy, a family with a new genetic mechanism for their neonatal convulsions and children with a novel mechanism for Startle disease (hyperekplexia).  He has demonstrated the clinical utility of this translational research by establishing a molecular genetic diagnostic service for genetic epilepsies. Professor Zuberi's work has made a significant contribution to the recognition of the epilepsies as genetic disorders and that the epilepsies and movement disorders can share genetic aetiologies. 

Genetics of Epilepsy 

Linked to the epilepsy genetics service, Professor Zuberi has established a research programme alongside colleagues from neuropsychology and molecular genetics. We have studied genotype phenotype relationships in SCN1A related epilepsies and have expanded this work to several genetic epilepsies. We are using validated quality of life tools to study the impact of epilepsy on children and families. We are also looking at family and physicians attitudes to genetic testing. We have ethical approval for long term study of a cohort of infants with epileptic encephalopathies and for a research database. 

During his time as chair of the Research & Audit Group of the Scottish Paediatric Epilepsy Network, Professor Zuberi led on development of a Scottish web-based Epilepsy Register and Database which facilitates identification of cohorts for prospective research.  

Chromosome disorders and epilepsy 

Professor Zuberi has an ongoing interest in defining electro-clinical epilepsy phenotypes associated with chromosomal disorders. We have published on 1p36 syndrome and on children with no dysmorphic features. He has established a worldwide collaboration along with Arnaud Biraben, Rennes looking at presentation, evolution and outcome in Ring Chromosome 20 Syndrome. We have identified children with small chromosomal deletions who may provide a way into finding new epilepsy genes. 

Neurological sleep disorders 

Professor Zuberi has developed an expertise in neurological sleep disorders which complements his epilepsy, genetic and paroxysmal disorder interests. His clinic attracts narcolepsy referrals from the UK and Ireland. This condition is an excellent model for understanding the neurobiology of sleep, neuropsychology of sleep and vegetative functions. 

PubMed

Google Scholar

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  Gaspard N, Hirsch LJ; International NORSE Consensus Group. International
  consensus recommendations for management of New Onset Refractory Status
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  consensus recommendations for management of New Onset Refractory Status
  Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome
  (FIRES): Summary and Clinical Tools. Epilepsia. 2022 Aug 11. doi:
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• 3: Guerrini R, Specchio N, Aledo-Serrano Á, Pringsheim M, Darra F, Mayer T, Gil-
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  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. 2022 Jul 8. doi:
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• 4: Brunklaus A, Brünger T, Feng T, Fons C, Lehikoinen A, Panagiotakaki E, Vintan
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  Perry M, Pysden K, Russ-Hall SJ, Scheffer IE, Sully K, Syrbe S, Vaher U,
  Velayutham M, Vogt J, Weiss S, Wirrell E, Zuberi SM, Lal D, Møller RS,
  Mantegazza M, Cestèle S. The gain of function SCN1A disorder spectrum: novel
  epilepsy phenotypes and therapeutic implications. Brain. 2022 Jun 13:awac210.
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• 5: McTague A, Brunklaus A, Barcia G, Varadkar S, Zuberi SM, Chatron N, Parrini
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• 6: Zuberi SM. Precision in child neurology: Networks, systems, and technology.
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• 7: Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM,
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  L, Naidoo A, Perucca E, Moshé SL, Wirrell EC, Tinuper P. International League
  Against Epilepsy classification and definition of epilepsy syndromes with onset
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• 8: Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, Guerreiro
  M, Gwer S, Zuberi SM, Wilmshurst JM, Yozawitz E, Pressler R, Hirsch E, Wiebe S,
  Cross HJ, Perucca E, Moshé SL, Tinuper P, Auvin S. 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.
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  PMID: 35503717.
• 9: Hirsch E, French J, Scheffer IE, Bogacz A, Alsaadi T, Sperling MR, Abdulla F,
  Zuberi SM, Trinka E, Specchio N, Somerville E, Samia P, Riney K, Nabbout R, Jain
  S, Wilmshurst JM, Auvin S, Wiebe S, Perucca E, Moshé SL, Tinuper P, Wirrell EC.
  ILAE definition of the Idiopathic Generalized Epilepsy Syndromes: Position
  statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022
  Jun;63(6):1475-1499. doi: 10.1111/epi.17236. Epub 2022 May 3. PMID: 35503716.
• 10: Wirrell EC, Nabbout R, Scheffer IE, Alsaadi T, Bogacz A, French JA, Hirsch
  E, Jain S, Kaneko S, Riney K, Samia P, Snead OC, Somerville E, Specchio N,
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  with list of syndromes: Report of the ILAE Task Force on Nosology and
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  2022 May 3. PMID: 35503715.
• 11: Zuberi SM, Wirrell E, Yozawitz E, Wilmshurst JM, Specchio N, Riney K,
  Pressler R, Auvin S, Samia P, Hirsch E, Galicchio S, Triki C, Snead OC, Wiebe S,
  Cross JH, Tinuper P, Scheffer IE, Perucca E, Moshé SL, Nabbout R. 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. 2022 Jun;63(6):1349-1397. doi: 10.1111/epi.17239. Epub 2022 May 3.
  PMID: 35503712.
• 12: Knupp KG, Scheffer IE, Ceulemans B, Sullivan JE, Nickels KC, Lagae L,
  Guerrini R, Zuberi SM, Nabbout R, Riney K, Shore S, Agarwal A, Lock M, Farfel
  GM, Galer BS, Gammaitoni AR, Davis R, Gil-Nagel A. Efficacy and Safety of
  Fenfluramine for the Treatment of Seizures Associated With Lennox-Gastaut
  Syndrome: A Randomized Clinical Trial. JAMA Neurol. 2022 Jun 1;79(6):554-564.
  doi: 10.1001/jamaneurol.2022.0829. PMID: 35499850; PMCID: PMC9062770.
• 13: Sullivan J, Deighton AM, Vila MC, Szabo SM, Maru B, Gofshteyn JS, James ES,
  Rico S, Zuberi SM. The clinical, economic, and humanistic burden of Dravet
  syndrome - A systematic literature review. Epilepsy Behav. 2022 May;130:108661.
  doi: 10.1016/j.yebeh.2022.108661. Epub 2022 Mar 22. PMID: 35334258.
• 14: Brunklaus A, Pérez-Palma E, Ghanty I, Xinge J, Brilstra E, Ceulemans B,
  Chemaly N, de Lange I, Depienne C, Guerrini R, Mei D, Møller RS, Nabbout R,
  Regan BM, Schneider AL, Scheffer IE, Schoonjans AS, Symonds JD, Weckhuysen S,
  Kattan MW, Zuberi SM, Lal D. Development and Validation of a Prediction Model
  for Early Diagnosis of <i>SCN1A</i>-Related Epilepsies. Neurology. 2022 Mar
  15;98(11):e1163-e1174. doi: 10.1212/WNL.0000000000200028. Epub 2022 Jan 24.
  PMID: 35074891; PMCID: PMC8935441.
• 15: Brunklaus A, Feng T, Brünger T, Perez-Palma E, Heyne H, Matthews E,
  Semsarian C, Symonds JD, Zuberi SM, Lal D, Schorge S. Gene variant effects
  across sodium channelopathies predict function and guide precision therapy.
  Brain. 2022 Jan 17:awac006. doi: 10.1093/brain/awac006. Epub ahead of print.
  PMID: 35037686.
• 16: Craiu D, Rener Primec Z, Lagae L, Vigevano F, Trinka E, Specchio N,
  Bakhtadze S, Cazacu C, Golli T, Zuberi SM. Vaccination and childhood epilepsies.
  Eur J Paediatr Neurol. 2022 Jan;36:57-68. doi: 10.1016/j.ejpn.2021.11.014. Epub
  2021 Dec 3. PMID: 34922162.
• 17: Cardenal-Muñoz E, Auvin S, Villanueva V, Cross JH, Zuberi SM, Lagae L, Aibar
  JÁ. Guidance on Dravet syndrome from infant to adult care: Road map for
  treatment planning in Europe. Epilepsia Open. 2022 Mar;7(1):11-26. doi:
  10.1002/epi4.12569. Epub 2021 Dec 19. PMID: 34882995; PMCID: PMC8886070.
• 18: Symonds JD, Elliott KS, Shetty J, Armstrong M, Brunklaus A, Cutcutache I,
  Diver LA, Dorris L, Gardiner S, Jollands A, Joss S, Kirkpatrick M, McLellan A,
  MacLeod S, O'Regan M, Page M, Pilley E, Pilz DT, Stephen E, Stewart K, Ashrafian
  H, Knight JC, Zuberi SM. Early childhood epilepsies: epidemiology,
  classification, aetiology, and socio-economic determinants. Brain. 2021 Oct
  22;144(9):2879-2891. doi: 10.1093/brain/awab162. PMID: 34687210; PMCID:
  PMC8557326.
• 19: Madan Cohen J, Checketts D, Dunayevich E, Gunning B, Hyslop A, Madhavan D,
  Villanueva V, Zolnowska M, Zuberi SM. Time to onset of cannabidiol treatment
  effects in Dravet syndrome: Analysis from two randomized controlled trials.
  Epilepsia. 2021 Sep;62(9):2218-2227. doi: 10.1111/epi.16974. Epub 2021 Jul 15.
  PMID: 34265088; PMCID: PMC8456817.
• 20: Hamilton R, Zuberi SM. Insufficient evidence to support the clinical
  diagnosis of an epileptic seizure. Doc Ophthalmol. 2021 Jun;142(3):399-400. doi:
  10.1007/s10633-021-09838-8. Epub 2021 Apr 28. PMID: 33913055.
• 21: Baumgartner T, Carreño M, Rocamora R, Bisulli F, Boni A, Brázdil M, Horak O,
  Craiu D, Pereira C, Guerrini R, San Antonio-Arce V, Schulze-Bonhage A, Zuberi
  SM, Hallböök T, Kalviainen R, Lagae L, Nguyen S, Quintas S, Franco A, Cross JH,
  Walker M, Arzimanoglou A, Rheims S, Granata T, Canafoglia L, Johannessen
  Landmark C, Sen A, Rattihalli R, Nabbout R, Tartara E, Santos M, Rangel R, Krsek
  P, Marusic P, Specchio N, Braun KPJ, Smeyers P, Villanueva V, Kotulska K, Surges
  R. A survey of the European Reference Network EpiCARE on clinical practice for
  selected rare epilepsies. Epilepsia Open. 2021 Jan 13;6(1):160-170. doi:
  10.1002/epi4.12459. PMID: 33681659; PMCID: PMC7918306.
• 22: Gulcebi MI, Bartolini E, Lee O, Lisgaras CP, Onat F, Mifsud J, Striano P,
  Vezzani A, Hildebrand MS, Jimenez-Jimenez D, Junck L, Lewis-Smith D, Scheffer
  IE, Thijs RD, Zuberi SM, Blenkinsop S, Fowler HJ, Foley A; Epilepsy Climate
  Change Consortium, Sisodiya SM. Climate change and epilepsy: Insights from
  clinical and basic science studies. Epilepsy Behav. 2021 Mar;116:107791. doi:
  10.1016/j.yebeh.2021.107791. Epub 2021 Feb 10. PMID: 33578223; PMCID:
  PMC9386889.
• 23: Pressler RM, Cilio MR, Mizrahi EM, Moshé SL, Nunes ML, Plouin P, Vanhatalo
  S, Yozawitz E, de Vries LS, Puthenveettil Vinayan K, Triki CC, Wilmshurst JM,
  Yamamoto H, Zuberi SM. The ILAE classification of seizures and the epilepsies:
  Modification for seizures in the neonate. Position paper by the ILAE Task Force
  on Neonatal Seizures. Epilepsia. 2021 Mar;62(3):615-628. doi: 10.1111/epi.16815.
  Epub 2021 Feb 1. PMID: 33522601.
• 24: Coughlin CR 2nd, Tseng LA, Abdenur JE, Ashmore C, Boemer F, Bok LA, Boyer M,
  Buhas D, Clayton PT, Das A, Dekker H, Evangeliou A, Feillet F, Footitt EJ, Gospe
  SM Jr, Hartmann H, Kara M, Kristensen E, Lee J, Lilje R, Longo N, Lunsing RJ,
  Mills P, Papadopoulou MT, Pearl PL, Piazzon F, Plecko B, Saini AG, Santra S,
  Sjarif DR, Stockler-Ipsiroglu S, Striano P, Van Hove JLK, Verhoeven-Duif NM,
  Wijburg FA, Zuberi SM, van Karnebeek CDM. Consensus guidelines for the diagnosis
  and management of pyridoxine-dependent epilepsy due to α-aminoadipic
  semialdehyde dehydrogenase deficiency. J Inherit Metab Dis. 2021
  Jan;44(1):178-192. doi: 10.1002/jimd.12332. Epub 2020 Dec 1. PMID: 33200442.
• 25: Surana P, Symonds JD, Srivastava P, Geetha TS, Jain R, Vedant R, Murugan S,
  Mahalingam S, Bhargava V, Goyal P, Zuberi SM, Jain V. Infantile spasms:
  Etiology, lead time and treatment response in a resource limited setting.
  Epilepsy Behav Rep. 2020 Oct 17;14:100397. doi: 10.1016/j.ebr.2020.100397. PMID:
  33196034; PMCID: PMC7656466.
• 26: Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam
  S, de Lange I, Zhang J, Myers CT, Fenger C, Afawi Z, Almanza Fuerte EP, Andrade
  DM, Balcik Y, Ben Zeev B, Bennett MF, Berkovic SF, Isidor B, Bouman A, Brilstra
  E, Busk ØL, Cairns A, Caumes R, Chatron N, Dale RC, de Geus C, Edery P, Gill D,
  Granild-Jensen JB, Gunderson L, Gunning B, Heimer G, Helle JR, Hildebrand MS,
  Hollingsworth G, Kharytonov V, Klee EW, Koeleman BPC, Koolen DA, Korff C, Küry
  S, Lesca G, Lev D, Leventer RJ, Mackay MT, Macke EL, McEntagart M, Mohammad SS,
  Monin P, Montomoli M, Morava E, Moutton S, Muir AM, Parrini E, Procopis P, Ranza
  E, Reed L, Reif PS, Rosenow F, Rossi M, Sadleir LG, Sadoway T, Schelhaas HJ,
  Schneider AL, Shah K, Shalev R, Sisodiya SM, Smol T, Stumpel CTRM, Stuurman K,
  Symonds JD, Mau-Them FT, Verbeek N, Verhoeven JS, Wallace G, Yosovich K, Zarate
  YA, Zerem A, Zuberi SM, Guerrini R, Mefford HC, Patel C, Zhang YH, Møller RS,
  Scheffer IE. NEXMIF encephalopathy: an X-linked disorder with male and female
  phenotypic patterns. Genet Med. 2021 Feb;23(2):363-373. doi:
  10.1038/s41436-020-00988-9. Epub 2020 Nov 4. PMID: 33144681.
• 27: Klepper J, Akman C, Armeno M, Auvin S, Cervenka M, Cross HJ, De Giorgis V,
  Della Marina A, Engelstad K, Heussinger N, Kossoff EH, Leen WG, Leiendecker B,
  Monani UR, Oguni H, Neal E, Pascual JM, Pearson TS, Pons R, Scheffer IE,
  Veggiotti P, Willemsen M, Zuberi SM, De Vivo DC. Glut1 Deficiency Syndrome
  (Glut1DS): State of the art in 2020 and recommendations of the international
  Glut1DS study group. Epilepsia Open. 2020 Aug 13;5(3):354-365. doi:
  10.1002/epi4.12414. PMID: 32913944; PMCID: PMC7469861.
• 28: Zuberi SM. The training & organisation of paediatric neurology in Europe.
  Eur J Paediatr Neurol. 2020 Sep;28:1. doi: 10.1016/j.ejpn.2020.08.007. Epub 2020
  Aug 21. PMID: 32900594; PMCID: PMC7441983.
• 29: Symonds JD, Moloney TC, Lang B, McLellan A, O'Regan ME, MacLeod S, Jollands
  A, Vincent A, Kirkpatrick M, Brunklaus A, Shetty J, Dorris L, Forbes K, Abu-
  Arafeh I, Andrew J, Brink P, Callaghan M, Cruden J, Findlay C, Grattan R,
  MacDonnell J, McKnight J, Morrison CA, Nairn L, Pilley E, Stephen E, Thomsen S,
  Webb A, Wilson M, Zuberi SM. Neuronal antibody prevalence in children with
  seizures under 3 years: A prospective national cohort. Neurology. 2020 Sep
  15;95(11):e1590-e1598. doi: 10.1212/WNL.0000000000010318. Epub 2020 Jul 20.
  PMID: 32690789.
• 30: Brunklaus A, Du J, Steckler F, Ghanty II, Johannesen KM, Fenger CD, Schorge
  S, Baez-Nieto D, Wang HR, Allen A, Pan JQ, Lerche H, Heyne H, Symonds JD, Zuberi
  SM, Sanders S, Sheidley BR, Craiu D, Olson HE, Weckhuysen S, DeJonge P, Helbig
  I, Van Esch H, Busa T, Milh M, Isidor B, Depienne C, Poduri A, Campbell AJ,
  Dimidschstein J, Møller RS, Lal D. Biological concepts in human sodium channel
  epilepsies and their relevance in clinical practice. Epilepsia. 2020
  Mar;61(3):387-399. doi: 10.1111/epi.16438. Epub 2020 Feb 23. PMID: 32090326.
• 31: Zuberi SM. Introduction to the special issue on epilepsy &
  neurodevelopmental disorders. Eur J Paediatr Neurol. 2020 Jan;24:1. doi:
  10.1016/j.ejpn.2020.01.007. Epub 2020 Jan 10. PMID: 31973985.
• 32: Wolff M, Brunklaus A, Zuberi SM. Phenotypic spectrum and genetics of
  SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.
  Epilepsia. 2019 Dec;60 Suppl 3:S59-S67. doi: 10.1111/epi.14935. PMID: 31904126.
• 33: Rice GI, Park S, Gavazzi F, Adang LA, Ayuk LA, Van Eyck L, Seabra L, Barrea
  C, Battini R, Belot A, Berg S, Billette de Villemeur T, Bley AE, Blumkin L,
  Boespflug-Tanguy O, Briggs TA, Brimble E, Dale RC, Darin N, Debray FG, De
  Giorgis V, Denecke J, Doummar D, Drake Af Hagelsrum G, Eleftheriou D, Estienne
  M, Fazzi E, Feillet F, Galli J, Hartog N, Harvengt J, Heron B, Heron D, Kelly
  DA, Lev D, Levrat V, Livingston JH, Marti I, Mignot C, Mochel F, Nougues MC,
  Oppermann I, Pérez-Dueñas B, Popp B, Rodero MP, Rodriguez D, Saletti V, Sharpe
  C, Tonduti D, Vadlamani G, Van Haren K, Tomas Vila M, Vogt J, Wassmer E,
  Wiedemann A, Wilson CJ, Zerem A, Zweier C, Zuberi SM, Orcesi S, Vanderver AL,
  Hur S, Crow YJ. Genetic and phenotypic spectrum associated with IFIH1 gain-of-
  function. Hum Mutat. 2020 Apr;41(4):837-849. doi: 10.1002/humu.23975. Epub 2020
  Jan 14. PMID: 31898846; PMCID: PMC7457149.
• 34: Brunklaus A, Schorge S, Smith AD, Ghanty I, Stewart K, Gardiner S, Du J,
  Pérez-Palma E, Symonds JD, Collier AC, Lal D, Zuberi SM. SCN1A variants from
  bench to bedside-improved clinical prediction from functional characterization.
  Hum Mutat. 2020 Feb;41(2):363-374. doi: 10.1002/humu.23943. Epub 2019 Nov 28.
  PMID: 31782251.
• 35: Symonds JD, Zuberi SM, Stewart K, McLellan A, O'Regan M, MacLeod S, Jollands
  A, Joss S, Kirkpatrick M, Brunklaus A, Pilz DT, Shetty J, Dorris L, Abu-Arafeh
  I, Andrew J, Brink P, Callaghan M, Cruden J, Diver LA, Findlay C, Gardiner S,
  Grattan R, Lang B, MacDonnell J, McKnight J, Morrison CA, Nairn L, Slean MM,
  Stephen E, Webb A, Vincent A, Wilson M. Incidence and phenotypes of childhood-
  onset genetic epilepsies: a prospective population-based national cohort. Brain.
  2019 Aug 1;142(8):2303-2318. doi: 10.1093/brain/awz195. PMID: 31302675; PMCID:
  PMC6658850.
• 36: Dorris L, O'Regan M, Wilson M, Zuberi SM. Progressive intellectual
  impairment in children with Encephalopathy related to Status Epilepticus during
  slow Sleep. Epileptic Disord. 2019 Jun 1;21(S1):88-96. doi:
  10.1684/epd.2019.1063. PMID: 31180329.
• 37: Hirsch E, Caraballo R, Bernardina BD, Loddenkemper T, Zuberi SM.
  Encephalopathy related to Status Epilepticus during slow Sleep: from concepts to
  terminology. Epileptic Disord. 2019 Jun 1;21(S1):5-12. doi:
  10.1684/epd.2019.1051. PMID: 31149900.
• 38: Zuberi SM. Editorial note. Eur J Paediatr Neurol. 2019 Jan;23(1):3. doi:
  10.1016/j.ejpn.2018.12.007. PMID: 30642533.
• 39: Nagyova R, Horsburgh G, Robertson A, Zuberi SM. The clinical utility of
  ambulatory EEG in childhood. Seizure. 2019 Jan;64:45-49. doi:
  10.1016/j.seizure.2018.11.020. Epub 2018 Nov 29. PMID: 30554130.
• 40: Chitre M, Nahorski MS, Stouffer K, Dunning-Davies B, Houston H, Wakeling EL,
  Brady AF, Zuberi SM, Suri M, Parker APJ, Woods CG. PEHO syndrome: the endpoint
  of different genetic epilepsies. J Med Genet. 2018 Dec;55(12):803-813. doi:
  10.1136/jmedgenet-2018-105288. Epub 2018 Oct 4. PMID: 30287594.
• 41: Zuberi SM. Precious time to respond to infantile spasms. Lancet Child
  Adolesc Health. 2018 Oct;2(10):691-693. doi: 10.1016/S2352-4642(18)30285-2. Epub
  2018 Aug 29. PMID: 30236370.
• 42: Myers KA, Bello-Espinosa LE, Symonds JD, Zuberi SM, Clegg R, Sadleir LG,
  Buchhalter J, Scheffer IE. Heart rate variability in epilepsy: A potential
  biomarker of sudden unexpected death in epilepsy risk. Epilepsia. 2018
  Jul;59(7):1372-1380. doi: 10.1111/epi.14438. Epub 2018 Jun 6. PMID: 29873813.
• 43: Devinsky O, Patel AD, Cross JH, Villanueva V, Wirrell EC, Privitera M,
  Greenwood SM, Roberts C, Checketts D, VanLandingham KE, Zuberi SM; GWPCARE3
  Study Group. Effect of Cannabidiol on Drop Seizures in the Lennox-Gastaut
  Syndrome. N Engl J Med. 2018 May 17;378(20):1888-1897. doi:
  10.1056/NEJMoa1714631. PMID: 29768152.
• 44: Snijders Blok L, Hiatt SM, Bowling KM, Prokop JW, Engel KL, Cochran JN,
  Bebin EM, Bijlsma EK, Ruivenkamp CAL, Terhal P, Simon MEH, Smith R, Hurst JA;
  DDD study, McLaughlin H, Person R, Crunk A, Wangler MF, Streff H, Symonds JD,
  Zuberi SM, Elliott KS, Sanders VR, Masunga A, Hopkin RJ, Dubbs HA, Ortiz-
  Gonzalez XR, Pfundt R, Brunner HG, Fisher SE, Kleefstra T, Cooper GM. De novo
  mutations in MED13, a component of the Mediator complex, are associated with a
  novel neurodevelopmental disorder. Hum Genet. 2018 May;137(5):375-388. doi:
  10.1007/s00439-018-1887-y. Epub 2018 May 8. PMID: 29740699; PMCID: PMC5973976.
• 45: Brodie MJ, Zuberi SM, Scheffer IE, Fisher RS. The 2017 ILAE classification
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  in infancy and reflex myoclonic epilepsy in infancy: a literature review and six
  new cases. Epilepsy Res. 2006 Aug;70 Suppl 1:S110-5. doi:
  10.1016/j.eplepsyres.2006.01.014. Epub 2006 Aug 10. PMID: 16904290.
• 101: Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S,
  Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ,
  Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Mutations
  in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human
  startle disease. Nat Genet. 2006 Jul;38(7):801-6. doi: 10.1038/ng1814. Epub 2006
  Jun 4. PMID: 16751771; PMCID: PMC3204411.
• 102: Berkovic SF, Harkin L, McMahon JM, Pelekanos JT, Zuberi SM, Wirrell EC,
  Gill DS, Iona X, Mulley JC, Scheffer IE. De-novo mutations of the sodium channel
  gene SCN1A in alleged vaccine encephalopathy: a retrospective study. Lancet
  Neurol. 2006 Jun;5(6):488-92. doi: 10.1016/S1474-4422(06)70446-X. PMID:
  16713920.
• 103: Horrocks IA, Nechay A, Stephenson JB, Zuberi SM. Anoxic-epileptic seizures:
  observational study of epileptic seizures induced by syncopes. Arch Dis Child.
  2005 Dec;90(12):1283-7. doi: 10.1136/adc.2005.075408. Epub 2005 Sep 13. PMID:
  16159903; PMCID: PMC1720208.
• 104: Macleod S, Ferrie C, Zuberi SM. Symptoms of narcolepsy in children
  misinterpreted as epilepsy. Epileptic Disord. 2005 Mar;7(1):13-7. PMID:
  15741135.
• 105: Macleod S, Mallik A, Tolmie JL, Stephenson JB, O'Regan ME, Zuberi SM.
  Electro-clinical phenotypes of chromosome disorders associated with epilepsy in
  the absence of dysmorphism. Brain Dev. 2005 Mar;27(2):118-24. doi:
  10.1016/j.braindev.2003.10.006. PMID: 15668051.
• 106: Stephenson JB, Hoffman MC, Russell AJ, Falconer J, Beach RC, Tolmie JL,
  McWilliam RC, Zuberi SM. The movement disorders of Coffin-Lowry syndrome. Brain
  Dev. 2005 Mar;27(2):108-13. doi: 10.1016/j.braindev.2003.11.010. PMID: 15668049.
• 107: Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP,
  Zuberi SM, Browne BH, Tolmie JL, Stephenson JB. Coats' plus: a progressive
  familial syndrome of bilateral Coats' disease, characteristic cerebral
  calcification, leukoencephalopathy, slow pre- and post-natal linear growth and
  defects of bone marrow and integument. Neuropediatrics. 2004 Feb;35(1):10-9.
  doi: 10.1055/s-2003-43552. PMID: 15002047.
• 108: Zuberi SM. Gene table. Central nervous system/neuromuscular
  channelopathies. Eur J Paediatr Neurol. 2003;7(4):187-90. doi:
  10.1016/s1090-3798(03)00053-9. PMID: 12865060.
• 109: McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D,
  Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM. Phenotypic
  comparison of two Scottish families with mutations in different genes causing
  autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003
  Apr;44(4):613-7. doi: 10.1046/j.1528-1157.2003.20102.x. PMID: 12681012.
• 110: Zuberi SM. Central/nervous system/neuromuscularchannelopathies. Eur J
  Paediatr Neurol. 2001;5(5):207-9. doi: 10.1053/ejpn.2001.0513. PMID: 11585110.
• 111: Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM,
  Hanna MG. Human epilepsy associated with dysfunction of the brain P/Q-type
  calcium channel. Lancet. 2001 Sep 8;358(9284):801-7. doi:
  10.1016/S0140-6736(01)05971-2. PMID: 11564488.
• 112: Byrne OC, Zuberi SM, Madigan CA, King MD. Hashimoto's thyroiditis--a rare
  but treatable cause of encephalopathy in children. Eur J Paediatr Neurol.
  2000;4(6):279-82. doi: 10.1053/ejpn.2000.0380. PMID: 11277369.
• 113: Zuberi SM, Hanna MG. Ion channels and neurology. Arch Dis Child. 2001
  Mar;84(3):277-80. doi: 10.1136/adc.84.3.277. PMID: 11207185; PMCID: PMC1718682.
• 114: Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE,
  Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC. CHRNB2 is the
  second acetylcholine receptor subunit associated with autosomal dominant
  nocturnal frontal lobe epilepsy. Am J Hum Genet. 2001 Jan;68(1):225-31. doi:
  10.1086/316946. Epub 2000 Dec 5. PMID: 11104662; PMCID: PMC1234917.
• 115: Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R,
  Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A.
  Clinical, genetic, and expression studies of mutations in the potassium channel
  gene KCNA1 reveal new phenotypic variability. Ann Neurol. 2000 Oct;48(4):647-56.
  PMID: 11026449.
• 116: Zuberi SM, Matta N, Nawaz S, Stephenson JB, McWilliam RC, Hollman A. Muscle
  ultrasound in the assessment of suspected neuromuscular disease in childhood.
  Neuromuscul Disord. 1999 Jun;9(4):203-7. doi: 10.1016/s0960-8966(99)00002-4.
  PMID: 10399745.
• 117: Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam
  RC, Stephenson JB, Kullmann DM, Hanna MG. A novel mutation in the human voltage-
  gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and
  sometimes with partial epilepsy. Brain. 1999 May;122 ( Pt 5):817-25. doi:
  10.1093/brain/122.5.817. Erratum in: Brain. 2007 Mar;130(Pt 3):879. Stephenson,
  J P [corrected to Stephenson, J B]. Erratum in: Brain. 2010 May;133(Pt 5):1569.
  PMID: 10355668.
• 118: Zuberi SM, Stephenson JB, Azmy AF, Robinson PH, McWilliam RC.
  Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric
  reflux. Arch Dis Child. 1998 Oct;79(4):363-4. doi: 10.1136/adc.79.4.363. PMID:
  9875052; PMCID: PMC1717712.
• 119: Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson
  JB. "Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome. J
  Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. PMID: 9507386; PMCID:
  PMC1051210.

• Stephenson JBP, Whitehouse W, & Zuberi SM “Paroxysmal non-epileptic disorders: differential diagnosis of epilepsy.” 
• In “Epilepsy in Children” 2nd Edition editors Sheila J Wallace and Kevin Farrell 2004.  Edward Arnold Publishers 
• JBP Stephenson and Zuberi SM Nonepileptic seizures and similar phenomena in children and adolescents.In “Imitators of Epilepsy” 2nd Edition editors PW Kaplan & RS Fisher 2005.Demos, New York, NY. 
• Zuberi SM. Infantile epilepsy associated with chromosomal disorders and malformations of cortical development. In Metabolic & Genetic Infantile Epilepsies. Editor Plecko B 2006. SPS VerlasgesellschaftmbH, Heilbronn 
• Zuberi SM Genetic Analysis. In The Educational Kit on Epilepsies, Volume 1, A Practical Guide to Childhood Epilepsies. Editor Panayiotopoulos CP. 2007. Medicinae, Oxford. 
• Zuberi SM & JBP Stephenson Syncopal or cardiac attacks imitating or provoking epileptic seizures. In The Educational Kit on Epilepsies, Volume 1, A Practical Guide to Childhood Epilepsies. Editor Panayiotopoulos CP. 2007. Medicinae, Oxford. 
• Zuberi SM The Differential Diagnosis of Epilepsy. In Epilepsy and Intellectual Disability. Editors Prasher VP & Kerr.MP 2008. Springer, New York 
• Zuberi SM Chromosome Disorders and Epilepsy in Handbook of Paediatric Neurology. Editors Dulac O, Sarnat H, Lassonde M. A 184 chapter textbook.  2010. Elsevier 
• Zuberi SM The Channelopathies. In Co-morbidities. Editors Bax MC &Gilberg C. 2010.Mac Keith Press. 
• Zuberi SM EEG in Chromosomal Disorders In Paediatric EEG – MacKeith Press. Editors AMcLellan& JK Brown. In press. 2011 
• Zuberi SM & Brunklaus A. Epilepsy in Cerebral Palsy. In The Causes of Epilepsy. Editors Shorvon S, Guerrini R, Andermann F. 2011. Cambridge University Press. 
• Zuberi SM Chromosome Disorders.In The Atlas of Epilepsies. Editors Sisodiya S, Panayiotopoulos CP. 2011. Springer. 
• Zuberi SM Channelopathies. In Temel Noroloji (Basic Neurology) Editor Murat Emre. 2011. Gunes Kitabevi (Chapter translated into Turkish) 
• Zuberi SM & Symonds J. The Differential Diagnosis of Epilepsy. In Epilepsy and Intellectual Disability. Editors Prasher VP & Kerr.MP 2nd Edition – 2018 
• Zuberi SM & Brunklaus A. Epilepsy in Cerebral Palsy. In The Causes of Epilepsy 2nd Edition. Editors Shorvon S, Guerrini R, Andermann F. 2019. Cambridge University Press. 
• Zuberi SM. Classification, Epidemiology, Prognosis. In Epileptic Syndromes in Infancy, Childhood & Adolescence. Editors Michelle Bureau et al. 2019. John Libbey. 

• Zuberi SM & Hanna MG (2001) Ion Channels and Neurology. Archives of Disease in Childhood 84:277-280
• Zuberi SM (2001) Central nervous system / Neuromuscular  European Journal of Paediatric Neurology.; 5:207-209.
• Zuberi SM (2003) Neurodisability and the channelopathies. Developmental Medicine and Child Neurology; 45 Suppl. 95:12-13.
• Zuberi SM (2003) Central Nervous System / Neuromuscular channelopathies. European Journal of Paediatric Neurology; 7:187-190
• Sisodiya S, Cross JH, Blumcke I, Chadwick D, Craig J, Crino PB, Debenham P,Delanty N, Elmslie F, Gardiner M, Golden J, Goldstein D, Greenberg DA, Guerrini R,  Hanna M, Harris J, Harrison P, Johnson MR, Kirov G, Kullman DM, Makoff A, Marini C, Nabbout R, Nashef L, Noebels JL, Ottman R, Pirmohamed M, Pitkanen A, Scheffer I, Shorvon S, Sills G, Wood N, Zuberi SM. (2007) Genetics of epilepsy: epilepsy research foundation workshop report Epileptic Disord. Jun;9(2):194-236
• Zuberi, SM. (2007). What can the chromosomal basis of epilepsy tell us more broadly? Epileptic Disorders, 9(2), 222-224.
• Dorris L, Scott N, Zuberi SM, Gibson N, Espie C. (2008) Sleep problems in children with neurological disorders Dev Neurorehabil. Apr-Jun;11(2):95-114. Review.
• Zuberi SM. (2010) Narcolepsy in Childhood. Journal of Pediatric Neurology.
• 8(1), 79-80
• Zuberi SM. (2010) Episodic Ataxias Type 1 & 2. Journal of Pediatric Neurology. 8(1), 63-64
• Stephenson, J. B. P.& Zuberi, SM. (2010).Coffin-Lowry syndrome. Journal of Pediatric Neurology, 8(1), 105-106.
• Kerr M, Gil-Nagel A, Glynn M, Mula M, Thompson R, Zuberi SM. Treatment of behavioral problems in intellectually disabled adults with (2013) Epilepsia; 54 Suppl 1:34-40
• Stenhouse SA, Ellis R, Zuberi SM. SCN1A Genetic Test for Dravet Syndrome (Severe Myoclonic Epilepsy of Infancy and its Clinical Subtypes) for use in the Diagnosis, Prognosis, Treatment and Management of Dravet Syndrome. (2013) PLoS Curr. April 25:5 online
• Brunklaus A, Dorris L, Zuberi SM. The impact of methylphenidate on seizure frequency and severity in children with attention-deficit-hyperactivity disorder and difficult-to-treat epilepsies. (2013) Developmental Medicine & Child Neurology 55:966-7. Letter.
• Brunklaus A, Zuberi SM. Dravet syndrome-From epileptic encephalopathy to channelopathy. (2014) Epilepsia 55:979-84
• Korff C, Brunklaus A, Zuberi SM. Epileptic encephalopathy: Epileptic activity is a surrogate for an underlying genetic and structural abnormality and stopping the activity has no impact on outcome. (2015) Epilepsia – invited review in Controversy series – 56:1477-1481
• Kerr M, Glynn G, Gil-Nagel A, Linehan C, Mula M, Thompson R, Zuberi SM. 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. (2014) Epilepsia 55:1902-1906 
• Zuberi SM. Chipping away at the channels; can we fashion a syndrome? (2015) Neurology 84:446-7. Editorial comment on paper SCN8A mutations in epilepsy.
• Zuberi SM. Editorial (2015). European Journal of Paediatric Neurology 19:275
• Zuberi SM. Editorial (2015). European Journal of Paediatric Neurology 19:389
• Jette N, Beghi E, Hesdorffer D, Moshe SL, Zuberi SM, Medina MT, Bergen D. ICD coding for epilepsy – past, present and future. Epilepsia (2015) 56: 348-355.
• Zuberi SM. Editorial (2016). European Journal of Paediatric Neurology 20:1-2
• Zuberi SM. Editorial (2016). European Journal of Paediatric Neurology 20:201-2
• Zuberi SM, Symonds JD. Update on diagnosis and management of childhood epilepsies (2015) Jornal de Pediatria. In press
• Steel D, Symonds JD, Zuberi SM, Brunklaus A. Dravet Syndrome and its mimics: Beyond SCN1A. Epilepsia In press.
• Symonds, D.,Zuberi, S.M. Genetics update: Monogenetics, polygene disorders and the quest for modifying genes . Neuropharmacology (In press)
• Zuberi SM, Striano The plus side of epilepsy phenotyping. Neurology 2017; 89:1202-1203
• Fisher RS, Cross HJ….Zuberi SM. Response to the numbering of seizure types. Epilepsia 2017; 58:1300-1301
• Symonds JD, Zuberi SM, Johnson MR. Advances in epilepsy gene discovery and implications for epilepsy diagnosis and treatment. Curr Opin Neurol. 2017 Apr;30(2):193-199.
• Zuberi SM Perucca A new classification is born. Epilepsia. 2017 Apr;58(4):511.
• Symonds JD, Zuberi SM. Genetics update: Monogenetics, polygene disorders and the quest for modifying genes. 2018 Apr;132:3-19. 
• Zuberi SM. Sleep, oxygen saturation, and seizures in Dravet syndrome. Dev Med Child Neurol. 2018 Feb;60(2):118. 
• Zuberi SM, Brunklaus A. Epilepsy in 2017: Precision medicine drives epilepsy classification and therapy. Nat Rev Neurol. 2018 Feb;14(2):67-68. 
• Zuberi SM. Editorial note. Eur J Paediatr Neurol. 2019 Jan;23(1):3. 
• Zuberi SM. Introduction to the special issue on epilepsy & neurodevelopmental disorders. Eur J Paediatr Neurol. 2020 Jan;24:1. Epub 2020 Jan 10. 
• Zuberi SM. The training & organisation of paediatric neurology in Europe. Eur J Paediatr 2020 Aug 21;28:1. doi: 10.1016/j.ejpn.2020.08.007. Epub ahead of print. 

Grants:

• The Scottish Paediatric Epilepsy Managed Clinical Network
  Scottish Executive – 2004
• Grant to develop a patient management information system for epilepsy
  Scottish Executive – 2006
• Ketogenic Diet Clinics for the Management of Paediatric Epilepsy
  Muir Maxwell Trust – 2004
• SCN1A genetic sequencing service for infantile onset epilepsy
  Muir Maxwell Trust – 2005 & 2008 
• Genotype-phenotype relationships in SCN1A related childhood epilepsies
  Muir Maxwell Trust & Yorkhill Endowment Funds – 2008    
• Investigating the relationship between sleep disturbance and learning in children with epilepsy
  The Waterloo Foundation – 2010
• The Childhood Epileptic Encephalopathies Database
  Dravet Syndrome UK – 2011 & 2018
• Exome sequencing in Dravet Syndrome & SCN1A related epileptic encephalopathies
  Dravet Syndrome UK – 2011
• Genetic heterogeneity of Dravet syndrome: the pathological roles of SCN2A,  SCN1B and GABRG2 in Dravet syndrome patients negative for  SCN1A  mutations
  Dravet Syndrome UK – 2012
• Genetic and Autoimmune Determinants of Childhood Epilepsy
  Epilepsy Research UK – 2013
• Paediatric, Transition & Adult Ketogenic Diet Services
  Daisy Garland Trust – 2014
• Next Generation Sequencing Service for Epilepsy
  National Specialist Services Scotland – 2014
• Genomic Investigation in Epilepsy Study (GENIE)
  UCB Pharma / Yorkhill Research Support Scheme – 2015
• Transcriptomics in SMC1A Related Epilepsy
  Tenovus foundation – 2018
• Innovations in Healthcare, Evaluation of an integrated carer-recorded video service (vCreateNeuro) to improve diagnosis and care for people with epilepsy
  Epilepsy Research UK - 2021
• BrAInwaves, a project to develop AI to help with epilepsy diagnosis
  Amazon Web Services, Health Equity Initiative Award - 2023

 Clinical Trials:

• Principal investigator for RCTs: Cannabinoids in Dravet Syndrome (2015) and Lennox-Gastaut Syndrome (2015)
• Fenfluramine in Dravet Syndrome (2016)
• UK CI for Fenfluramine in Dravet Syndrome (2017)

• Edinburgh University Medical School - Class Medal in Clinical Practice (1987)
• Ronnie Mac Keith Prize – British Paediatric Neurology Association (2000)
• Millennium Young Physicians Gowers Prize – British Branch International League Against Epilepsy (1999)
• Hospital Doctor Magazine Awards – Runner up as Team Leader Sleep Medicine Category (2003)
• Award of Honorary Membership of Paediatric Neurology & Development Association of South Africa (2007)
• Highly Commended- Team category. Glasgow Epilepsy Genetics Service. Joint Epilepsy Council Awards (2007) 
• Scottish Parliament Debate May 2012 – Motion to Commend Work of Glasgow Epilepsy Genetics Service (2012) 
• Scottish Health Awards 2012, Women and Children’s Category Winner, The Glasgow Epilepsy Genetics Service (2012) 
• The Times – named in Britain’s Top 100 Children’s Doctors (2012)
• Epilepsy Champion Award – Discovery Section, awarded by Young Epilepsy (2015)
• Ambassador for Epilepsy Award – awarded by International League Against Epilepsy for international contribution to epilepsy care & research (2017)

Awards for colleagues working under Professor Zuberi’s supervision:  

• Dr Ailsa McLellan – Douglas Miller Prize for best scientific presentation Scottish Association of Neurological Sciences (2000)
• Miss Rachael Birch – UK Young Clinical Scientist of the Year for her work developing the SCN1A service (2008)
• Mr Joseph Symonds (Medical student) – Scottish Paediatric  Society Prize for best Scientific Presentation (2008)
• Dr Andreas Brunklaus - Ronnie Mac Keith Prize for Paediatric Neurology Research (2013)
• Miss Brooke Marron (Medical Student) – Cameron Ure Prize for Outstanding BSc Dissertation, University of Glasgow (2017)
• Dr Joseph Symonds - Grass Young Investigator Award, American Epilepsy Society (2017)
• Dr Joseph Symonds - Jack M Pellock Paediatric travel award, American Epilepsy Society (2018)

• Royal College of Paediatrics and Child Health (RCPCH)
• Scottish Paediatric Society (SPS)
• British Paediatric Neurology Association (BPNA)
• European Paediatric Neurology Society (EPNS)
• International Child Neurology Association (ICNA)
• American Epilepsy Society (AES)
• International League Against Epilepsy (ILAE)
• British Medical Association (BMA)
• British Sleep Society