Males with epilepsy, complete subcortical band heterotopia, and somatic mosaicism for DCX.
Neurology
; 58(10): 1559-62, 2002 May 28.
Article
en En
| MEDLINE
| ID: mdl-12034802
ABSTRACT
Subcortical band heterotopia (SBH) is seen predominantly in females, resulting from mutations in the X-linked doublecortin (DCX) gene, and can present with mild mental retardation and epilepsy. Males carrying DCX mutations usually demonstrate lissencephaly and are clinically much more severely affected. This article reports two cases of males with SBH indistinguishable from the female phenotype, both resulting from somatic mosaicism for DCX mutation.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Neuropéptidos
/
Encéfalo
/
Coristoma
/
Epilepsia
/
Proteínas Asociadas a Microtúbulos
/
Mosaicismo
Límite:
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Año:
2002
Tipo del documento:
Article
País de afiliación:
Estados Unidos