PRRT2 mutations are the major cause of benign familial infantile seizures.
Hum Mutat
; 33(10): 1439-43, 2012 Oct.
Article
en En
| MEDLINE
| ID: mdl-22623405
ABSTRACT
Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Espasmos Infantiles
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Proteínas de la Membrana
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Proteínas del Tejido Nervioso
Límite:
Adolescent
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Adult
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Aged
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Child
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Child, preschool
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Humans
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Infant
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Male
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Middle aged
Idioma:
En
Revista:
Hum Mutat
Asunto de la revista:
GENETICA MEDICA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Alemania