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Article

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions.

Neurology - 21 Aug 2012

van Vliet Rianne, Breedveld Guido, de Rijk-van Andel Johanneke, Brilstra Eva, Verbeek Nienke, Verschuuren-Bemelmans Corien, Boon Maartje, Samijn Johnny, Diderich Karin, van de Laar Ingrid, Oostra Ben, Bonifati Vincenzo, Maat-Kievit Anneke

Abstract excerpt

OBJECTIVE: To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a movement disorder characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations. METHODS: We performed clinical and genetic studies in 3 large families with...

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Identifiers

PMID: 22875091
DOI: 10.1212/WNL.0b013e3182661fe3

Genes

PRRT2

Variants

Provenance

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