Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family

BACKGROUND: Mutations in PRRT2 cause autosomal dominant paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC). CASE PRESENTATION: A previously not recognized intronic PRRT2 mutation (c.880-35G > A; p.S294Lfs*29) was found in an 18 month old girl with IC and in her mother with clas...

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Detalles Bibliográficos
Autores principales: Weber, Axel, Kreth, Jonas, Müller, Ulrich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776392/
https://www.ncbi.nlm.nih.gov/pubmed/26936445
http://dx.doi.org/10.1186/s12881-016-0281-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4776392/
https://www.ncbi.nlm.nih.gov/pubmed/26936445
http://dx.doi.org/10.1186/s12881-016-0281-7

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