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Document type:
Article; Case Reports; Journal Article 
Author(s):
Boonsimma, Ponghatai; Michael Gasser, Marius; Netbaramee, Wiracha; Wechapinan, Thanin; Srichomthong, Chalurmpon; Ittiwut, Chupong; Wagner, Matias; Krenn, Martin; Zimprich, Fritz; Abicht, Angela; Biskup, Saskia; Roser, Timo; Borggraefe, Ingo; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk 
Title:
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases. 
Abstract:
BACKGROUND: Mutations in the ATP1A3 gene are known to be the cause of three distinct neurological syndromes including alternating hemiplegia of childhood (AHC), rapid-onset dystonia parkinsonism (RDP) and cerebellar ataxia, arefexia, pes cavus, optic atrophy and sensorineural hearing impairment (CAPOS). Recent studies have suggested the broader diversity of ATP1A3-related disorders. This study aimed to investigate the clinical spectrum in patients carrying causative mutations within the ATP1A3 g...    »
 
Journal title abbreviation:
Gene 
Year:
2020 
Journal volume:
749 
Print-ISSN:
0378-1119 
TUM Institution:
611; Institut für Humangenetik