Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.11.007
Abstract: Alternating hemiplegia of childhood (AHC) is a rare neurological disease mainly caused by mutations in the ATP1A3 gene and showing varied clinical severity according to genotype. Patients with a p.Gly755Ser (p.G755S) mutation, one of minor… read more here.
Keywords: hemiplegia childhood; long term; atp1a3 gene; mutation ... See more keywords
A novel presentation of an ATP1A3 gene mutation - case report and literature review.
Sign Up to like & getrecommendations! Published in 2022 at "European review for medical and pharmacological sciences"
DOI: 10.26355/eurrev_202202_28100
Abstract: OBJECTIVE Mutations in the ATP1A3 gene cause the classical disorders of rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia of childhood (AHC) and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS). However, intermediate phenotypes… read more here.
Keywords: case report; atp1a3 gene; gene; mutation ... See more keywords
The role of ATP1A3 gene in epilepsy: We need to know more
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cellular Neuroscience"
DOI: 10.3389/fncel.2023.1143956
Abstract: The ATP1A3 gene, which encodes the Na+/K+-ATPase α3 catalytic subunit, plays a crucial role in both physiological and pathological conditions in the brain, and mutations in this gene have been associated with a wide variety… read more here.
Keywords: role atp1a3; gene epilepsy; atp1a3 gene; atp1a3 ... See more keywords