A novel ATP1A2 variant associated with severe stepwise regression, hemiplegia, epilepsy and movement disorders in two unrelated patients
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference22 articles.
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3. Alternating hemiplegia of childhood;Bourgeois;J. Pediatr.,1993
4. Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome;Sweeney;Pediatrics,2009
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2. Developmental and epileptic encephalopathy produced by the ATP1A2 mutation;S.S. Korsakov Journal of Neurology and Psychiatry;2024
3. Differential diagnosis of chorea (guidelines of the German Neurological Society);Neurological Research and Practice;2023-11-23
4. Clinical features and genetic analysis of two Chinese ATP1A2 gene variants pedigrees of familial hemiplegic migraine;Journal of Neurorestoratology;2023-06
5. A novel heterozygous ATP1A2 pathogenic variant in a Chinese child with MELAS‐like alternating hemiplegia;Molecular Genetics & Genomic Medicine;2023-02-07
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