Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family.
Epileptic Disord
; 12(2): 117-24, 2010 Jun.
Article
em En
| MEDLINE
| ID: mdl-20562086
SCN1A mutations account for a large proportion of Dravet syndrome patients, and are reported in other cases of epilepsy, such as some families with genetic epilepsy with febrile seizures plus (GEFS+). While most Dravet syndrome cases are caused by de novo mutations, 5% inherit a mutation from a mildly affected or symptom-free parent. Parental mosaicism has been identified, with documented cases involving truncating mutations or gene rearrangements. We describe a Roma/Gypsy family, where a missense mutation in SCN1A, p.D194N, is transmitted from a mosaic GEFS+ father to a child with Dravet syndrome. Mosaicism may be more common than assumed and should be considered regardless of the nature of the mutation.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Canais de Sódio
/
Roma (Grupo Étnico)
/
Convulsões Febris
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Mutação de Sentido Incorreto
/
Alelos
/
Epilepsia
/
Mosaicismo
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
/
Observational_studies
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Prognostic_studies
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Ano de publicação:
2010
Tipo de documento:
Article