The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy.
Epilepsy Res
; 47(3): 243-6, 2001 Dec.
Article
en En
| MEDLINE
| ID: mdl-11738931
ABSTRACT
We tested the hypothesis that genetic variation in the human sodium channel gene SCN2A confers liability to idiopathic generalized epilepsy (IGE). We performed a systematic search for mutations in 46 familial IGE cases and detected three novel polymorphisms, however, allele frequencies did not differ significantly between patients and controls. A rare mutation (R1918H) was identified in one patient but was absent in one further affected family member. Thus, our results do not suggest a major role of SCN2A in the etiology of IGE.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Variación Genética
/
Canales de Sodio
/
Epilepsia Generalizada
/
Mutación
/
Proteínas del Tejido Nervioso
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Epilepsy Res
Asunto de la revista:
CEREBRO
/
NEUROLOGIA
Año:
2001
Tipo del documento:
Article
País de afiliación:
Alemania