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Article

Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

Epilepsia - 1 Dec 2012

Labate Angelo, Tarantino Patrizia, Viri Maurizio, Mumoli Laura, Gagliardi Monica, Romeo Antonino, Zara Federico, Annesi Grazia, Gambardella Antonio

Abstract excerpt

Heterozygous mutations of PRRT2, which encodes proline-rich transmembrane protein 2, are associated with heterogeneous phenotypes including benign familial infantile seizures (BFIS), or familial paroxysmal kinesigenic dystonia (PKD). We report a consanguineous Italian family with BFIS/PKD phenotype that contained 14 living members with 6 affected individuals (four men, ranging in age from 6-44 years). We...

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Identifiers

PMID: 23126439
DOI: 10.1111/epi.12009

Genes

PRRT2

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