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Eur J Paediatr Neurol ; 15(2): 155-7, 2011 Mar.
Article in English | MEDLINE | ID: mdl-20813567

ABSTRACT

Panayiotopoulos syndrome is encompassed in the classification of the ILAE in idiopathic focal epilepsies. Mutations in the SCN1A gene have been associated with the development of this syndrome. We present two cases of Panayiotopoulos syndrome in two monozygotic twins, who underwent a molecular analysis of SCN1A, but no alteration was found. These cases suggest a genetic origin, and SCN1A appears to be associated with the outcome but not with the development of this syndrome.


Subject(s)
Arachnoid Cysts/genetics , Autonomic Nervous System Diseases/genetics , Epilepsies, Partial/genetics , Genetic Predisposition to Disease/genetics , Mutation/genetics , Nerve Tissue Proteins/genetics , Sodium Channels/genetics , Arachnoid Cysts/pathology , Autonomic Nervous System Diseases/metabolism , Child, Preschool , Epilepsies, Partial/metabolism , Humans , Male , NAV1.1 Voltage-Gated Sodium Channel , Syndrome , Twins/genetics
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