Tag: Mutation

RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhoodRHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood

Sara Zagaglia, Dora Steel, S Krithika, Laura Hernandez-Hernandez, Helena Martins Custodio, Kathleen M Gorman, Aikaterini Vezyroglou,  View ORCID Profile Rikke S Møller, Mary D King FRCPCH, Trine Bjørg Hammer,  View ORCID Profile Robert Spaull, Walid Fazeli, Tobias Bartolomaeus, Diane Doummar, Boris Keren, Cyril Mignot, Nathalie Bednarek, J

Effect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case ReportEffect of Flunarizine on Alternating Hemiplegia of Childhood in a Patient with the p.E815K Mutation in ATP1A3: A Case Report

Shouichirou Kusunoki Jun Kido Ken Momosaki Takaaki SawadaTomoko Kashiki Shirou Matsumoto Kimitoshi NakamuraDepartment of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan AbstractAlternating hemiplegia of childhood (AHC) (MIM