期刊
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
卷 15, 期 2, 页码 155-157出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.ejpn.2010.08.002
关键词
SCN1A; Panayiotopoulos syndrome; Epilepsy
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. (C) 2010 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.
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