Panayiotopoulos syndrome: Probable genetic origin, but not in SCN1A

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 molecu...

Full description

Saved in:
Bibliographic Details
Published in:European journal of paediatric neurology 2011-03, Vol.15 (2), p.155-157
Main Authors: Martín del Valle, F, Díaz Negrillo, A, Ares Mateos, G, Sanz Santaeufemia, F.J, Del Rosal Rabes, T, González-Valcárcel Sánchez-Puelles, F.J
Format: Article
Language:English
Subjects:
Arachnoid Cysts - genetics
Arachnoid Cysts - pathology
Autonomic Nervous System Diseases - genetics
Autonomic Nervous System Diseases - metabolism
Child, Preschool
Classification
Epilepsies, Partial - genetics
Epilepsies, Partial - metabolism
Epilepsy
Genetic Predisposition to Disease - genetics
Humans
Male
Mutation
Mutation - genetics
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins - genetics
Neurology
Panayiotopoulos syndrome
Pediatrics
SCN1A
Sodium channels (voltage-gated)
Sodium Channels - genetics
Syndrome
Twins
Twins - genetics
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1090-3798
1532-2130
DOI:10.1016/j.ejpn.2010.08.002