Severe phenotypic spectrum of biallelic mutations in PRRT2 gene
Marion Delcourt, Florence Riant, Josette Mancini, Mathieu Milh, Vincent Navarro, Emmanuel Roze, Véronique Humbertclaude, Christian Korff, Vincent Des Portes, Pierre Szepetowski, Diane Doummar, Bernard Echenne, Samuel Quintin, Nicolas Leboucq, Rabbind Singh Amrathlal, Jacques Rochette, Agathe Roubertie
Journal of Neurology, Neurosurgery & Psychiatry Jul 2015, 86 (7) 782-785; DOI: 10.1136/jnnp-2014-309025