Variable neurologic phenotype in a GEFS+ family with a novel mutation in SCN1A

Abstract Purpose To describe the spectrum of clinical disease in a mutliplex family with an autosomal dominant form of generalized epilepsy with febrile seizures plus (GEFS+) and determine its genetic etiology. Methods Medical and family history was obtained on 11 clinically affected individuals and...

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Veröffentlicht in:	Seizure (London, England) England), 2009-09, Vol.18 (7), p.492-497
Hauptverfasser:	Mahoney, Krista, Moore, Susan J, Buckley, David, Alam, Muhammed, Parfrey, Patrick, Penney, Sharon, Merner, Nancy, Hodgkinson, Kathy, Young, Terry-Lynn
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Anxiety - etiology Anxiety - genetics Ataxia - etiology Ataxia - genetics Child Child, Preschool DNA Mutational Analysis Epilepsy Epilepsy, Generalized - complications Epilepsy, Generalized - genetics Family Health Female GEFS Genetic Predisposition to Disease Genotype Humans Male Middle Aged Mutation Mutation, Missense NAV1.1 Voltage-Gated Sodium Channel Nerve Tissue Proteins - genetics Neurology Neuropsychiatric Phenotype SCN1A Seizures, Febrile - complications Seizures, Febrile - genetics Sodium Channels - genetics
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