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Open Access Green as soon as Postprint is submitted to ZB.
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Gene 749:144709 (2020)
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 gene.Method: The medical histories of nine unrelated patients with diverse phenotypes harboring variants in ATP1A3 were retrospectively analyzed after they were referred to a tertiary epilepsy center in one of the two different health care systems (Germany or Thailand). Clinical features, neurophysiological data, imaging results, genetic characteristics and treatments were reviewed.Results: Three patients harbor novel mutations in the ATP1A3 gene. Atypical clinical features and imaging findings were observed in two cases, one with hemiplegia-hemiconvulsion-epilepsy syndrome, and the other with neurodegeneration with brain iron accumulation. All nine patients presented with intellectual impairment. Alternating hemiplegia of childhood (AHC) was the most common phenotype (67%). Flunarizine and topiramate led to symptom reduction in 83% and 25% of AHC cases administered, respectively.Conclusion: The present case series expands the clinical and genetic spectrum of ATPIA3-related disorders.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Alternating Hemiplegia Of Childhood ; Epilepsy ; Epileptic Encephalopathy ; Atp1a3 ; Hemiplegia-hemiconvulsion-epilepsy Syndrome ; Neurogeneration With Brain Iron Accumulation; Onset Dystonia-parkinsonism; De-novo Mutations; Alternating Hemiplegia; Atp1a3 Mutation; Clinical-manifestations; Childhood; Epilepsy; Patient; Neurodegeneration; Rdp
ISSN (print) / ISBN
0378-1119
e-ISSN
1879-0038
Journal
Gene
Quellenangaben
Volume: 749,
Article Number: 144709
Publisher
Elsevier
Publishing Place
Radarweg 29, 1043 Nx Amsterdam, Netherlands
Non-patent literature
Publications
Reviewing status
Peer reviewed