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Sameer Zuberi
Sameer Zuberi
Honorary Professor of Child Neurology, University of Glasgow
Verified email at glasgow.ac.uk
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Cited by
Year
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
35742017
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
24372017
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
8822017
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
6952018
Effect of Cannabidiol on Drop Seizures in the Lennox–Gastaut Syndrome
SM Greenwood, C Roberts, D Checketts, KE Vanlandingham, SM Zuberi
695*2018
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
5392007
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
4952014
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
4592015
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
4582006
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
4442001
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
4111999
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
4022007
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
3692001
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
3162012
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
3052000
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
2972006
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
2822012
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
2762008
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
2582010
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
2452011
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