Panayiotopoulos syndrome: probable genetic origin, but not in SCN1A.
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.
Martín Del Valle
F
F
Paediatric Neurology Unit, Paediatric Service, Infanta Elena Hospital, Av Reyes Católicos 21, CP 28340 Valdemoro, Madrid, Spain. fernandomartindelvalle@yahoo.es
Díaz Negrillo
A
A
Ares Mateos
G
G
Sanz Santaeufemia
F J
FJ
Del Rosal Rabes
T
T
González-Valcárcel Sánchez-Puelles
F J
FJ
D016080:Arachnoid Cysts / Q000235:genetics* / Q000473:pathology; D001342:Autonomic Nervous System Diseases / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D004828:Epilepsies, Partial / Q000235:genetics* / Q000378:metabolism; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*; D013577:Syndrome; D014427:Twins / Q000235:genetics
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels