Article
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
Journal of neurology, neurosurgery, and psychiatry - 1 Jul 2015
Delcourt Marion, Riant Florence, Mancini Josette, Milh Mathieu, Navarro Vincent, Roze Emmanuel, Humbertclaude Véronique, Korff Christian, Des Portes Vincent, Szepetowski Pierre, Doummar Diane, Echenne Bernard, Quintin Samuel, Leboucq Nicolas, Singh Amrathlal Rabbind, Rochette Jacques, Roubertie Agathe
Abstract excerpt
BACKGROUND: Heterozygous dominant mutations of PRRT2 have been associated with various types of paroxysmal neurological manifestations, including benign familial infantile convulsions and paroxysmal kinesigenic dyskinesia. The phenotype associated with biallelic mutations is not well understood as few cases have been reported. METHODS: PRRT2 screening was performed by Sanger sequencing and quantitative multiplex...
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