Article
Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.
Epilepsia - 1 Mar 2017
Mulkey Sarah B, Ben-Zeev Bruria, Nicolai Joost, Carroll John L, Grønborg Sabine, Jiang Yong-Hui, Joshi Nishtha, Kelly Megan, Koolen David A, Mikati Mohamad A, Park Kristen, Pearl Phillip L, Scheffer Ingrid E, Spillmann Rebecca C, Taglialatela Maurizio, Vieker Silvia, Weckhuysen Sarah, Cooper Edward C, Cilio Maria Roberta
Abstract excerpt
OBJECTIVE: To analyze whether KCNQ2 R201C and R201H variants, which show atypical gain-of-function electrophysiologic properties in vitro, have a distinct clinical presentation and outcome. METHODS: Ten children with heterozygous, de novo KCNQ2 R201C or R201H variants were identified worldwide, using an institutional review board (IRB)-approved KCNQ2 patient registry and database. We reviewed medical records and,...
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