Auteurs
Delcourt M - Riant F - Mancini J - Milh M - Navarro V - Roze E - Humbertclaude V - Korff C - Des Portes V - Szepetowski P - Doummar D - Echenne B - Quintin S - Leboucq N - Singh Amrathlal R - Rochette J - Roubertie A
Journal
Journal of neurology, neurosurgery, and psychiatry
Abstract
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.