Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
Cell Rep
; 1(1): 2-12, 2012 Jan 26.
Article
en En
| MEDLINE
| ID: mdl-22832103
ABSTRACT
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant inheritance and high penetrance, but the causative genetic mutation is unknown. We have now identified four truncating mutations involving the gene PRRT2 in the vast majority (24/25) of well-characterized families with PKD/IC. PRRT2 truncating mutations were also detected in 28 of 78 additional families. PRRT2 encodes a proline-rich transmembrane protein of unknown function that has been reported to interact with the t-SNARE, SNAP25. PRRT2 localizes to axons but not to dendritic processes in primary neuronal culture, and mutants associated with PKD/IC lead to dramatically reduced PRRT2 levels, leading ultimately to neuronal hyperexcitability that manifests in vivo as PKD/IC.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Convulsiones
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Distonía
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Proteínas de la Membrana
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Mutación
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Proteínas del Tejido Nervioso
Límite:
Animals
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Female
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Humans
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Male
Idioma:
En
Revista:
Cell Rep
Año:
2012
Tipo del documento:
Article
País de afiliación:
Estados Unidos