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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 | 439 | 1999 |
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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 | 391 | 2001 |
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 | 327 | 2006 |
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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 | 319 | 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 | 313 | 2008 |
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