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Boonsimma, P.* ; Gasser, M.M.* ; Netbaramee, W.* ; Wechapinan, T.* ; Srichomthong, C.* ; Ittiwut, C.* ; Wagner, M. ; Krenn, M.* ; Zimprich, F.* ; Abicht, A.* ; Biskup, S.* ; Roser, T.* ; Borggraefe, I.* ; Suphapeetiporn, K.* ; Shotelersuk, V.*

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Gene 749:144709 (2020)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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
Language english
Publication Year 2020
HGF-reported in Year 2020
ISSN (print) / ISBN 0378-1119
e-ISSN 1879-0038
Journal Gene
Quellenangaben Volume: 749, Issue: , Pages: , Article Number: 144709 Supplement: ,
Publisher Elsevier
Publishing Place Radarweg 29, 1043 Nx Amsterdam, Netherlands
Reviewing status Peer reviewed
Institute(s) Institute of Neurogenomics (ING)
Institute of Human Genetics (IHG)
POF-Topic(s) 30205 - Bioengineering and Digital Health
30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-503200-001
G-500700-001
DOI 10.1016/j.gene.2020.144709
WOS ID WOS:000538870600007
Scopus ID 85086052581
PubMed ID 32339621
Erfassungsdatum 2020-06-18
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