Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.
Biela M, Rydzanicz M, Szymanska K, Pieniawska-Smiech K, Lewandowicz-Uszynska A, Chruszcz J, Benben L, Kuzior-Plawiak M, Szyld P, Jakubiak A, Szenborn L, Ploski R, Smigiel R.
Biela M, et al.
Mol Genet Genomic Med. 2021 Sep;9(9):e1772. doi: 10.1002/mgg3.1772. Epub 2021 Aug 2.
Mol Genet Genomic Med. 2021.
PMID: 34342181
Free PMC article.
Review.
BACKGROUND: Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic …
BACKGROUND: Variants in ATP1A3 cause well-known phenotypes-alternating hemiplegia of childhood (AHC), rapid-onset dystonia-parkinsoni …