Sameer Zuberi
Sameer Zuberi
Honorary Professor of Child Neurology, University of Glasgow
Verified email at
Cited by
Cited by
ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology
IE Scheffer, S Berkovic, G Capovilla, MB Connolly, J French, L Guilhoto, ...
Epilepsia 58 (4), 512-521, 2017
Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology
RS Fisher, JH Cross, JA French, N Higurashi, E Hirsch, FE Jansen, ...
Epilepsia 58 (4), 522-530, 2017
Instruction manual for the ILAE 2017 operational classification of seizure types
RS Fisher, JH Cross, C D'souza, JA French, SR Haut, N Higurashi, ...
Epilepsia 58 (4), 531-542, 2017
The spectrum of SCN1A-related infantile epileptic encephalopathies
LA Harkin, JM McMahon, X Iona, L Dibbens, JT Pelekanos, SM Zuberi, ...
Brain 130 (3), 843-852, 2007
Effect of cannabidiol on drop seizures in the Lennox–Gastaut syndrome
O Devinsky, AD Patel, JH Cross, V Villanueva, EC Wirrell, M Privitera, ...
New England Journal of Medicine 378 (20), 1888-1897, 2018
Effect of Cannabidiol on Drop Seizures in the Lennox–Gastaut Syndrome
SM Greenwood, C Roberts, D Checketts, KE Vanlandingham, SM Zuberi
Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel
A Jouvenceau, LH Eunson, A Spauschus, V Ramesh, SM Zuberi, ...
The Lancet 358 (9284), 801-807, 2001
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503, 2014
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
SM Zuberi, LH Eunson, A Spauschus, R De Silva, J Tolmie, NW Wood, ...
Brain 122 (5), 817-825, 1999
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American Journal of Medical Genetics Part A 167 (2), 296-312, 2015
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
HA Phillips, I Favre, M Kirkpatrick, SM Zuberi, D Goudie, SE Heron, ...
The American Journal of Human Genetics 68 (1), 225-231, 2001
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
LH Eunson, R Rea, SM Zuberi, S Youroukos, CP Panayiotopoulos, ...
Annals of Neurology: Official Journal of the American Neurological …, 2000
De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study
SF Berkovic, L Harkin, JM McMahon, JT Pelekanos, SM Zuberi, EC Wirrell, ...
The Lancet Neurology 5 (6), 488-492, 2006
Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome
A Brunklaus, R Ellis, E Reavey, GH Forbes, SM Zuberi
Brain 135 (8), 2329-2336, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
SE Heron, BE Grinton, S Kivity, Z Afawi, SM Zuberi, JN Hughes, ...
The American Journal of Human Genetics 90 (1), 152-160, 2012
Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation
A Battaglia, HE Hoyme, B Dallapiccola, E Zackai, L Hudgins, ...
Pediatrics 121 (2), 404-410, 2008
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)
PB Mills, EJ Footitt, KA Mills, K Tuschl, S Aylett, S Varadkar, C Hemingway, ...
Brain 133 (7), 2148-2159, 2010
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle disease
MI Rees, K Harvey, BR Pearce, SK Chung, IC Duguid, P Thomas, ...
Nature genetics 38 (7), 801, 2006
Genotype–phenotype associations in SCN1A-related epilepsies
SM Zuberi, A Brunklaus, R Birch, E Reavey, J Duncan, GH Forbes
Neurology 76 (7), 594-600, 2011
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