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GenomicsComparative characterization of AHC associated mutations in ATP1A3 reveals diverse neurological alterations in mice.
Comparative characterization of AHC associated mutations in ATP1A3 reveals diverse neurological alterations in mice.
PRJNA1170305 | ENA
TranscriptomicsComparative characterization of AHC associated mutations in ATP1A3 reveals diverse neurological alterations in mice.
Pathogenic variants the neuronal Na+/K+ ATPase transmembrane ion transporter (ATP1A3) cause a spectrum of neurological disorders including alternating hemiplegia of childhood (AHC). The most common pathogenic variants in AHC are the p.D801N (~40%) and p.E815K (~25%) variant, which lead to spontaneou...
ORGANISM(S): Mus musculus 
2025-05-09 | GSE279074 | GEO
UnknownDe novo ATP1A3 variants cause polymicrogyria.
Not available
S-EPMC7990330 | biostudies-literature
UnknownDe novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Not available
S-EPMC3442240 | biostudies-literature
UnknownATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Not available
S-EPMC6850116 | biostudies-literature
UnknownCation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Not available
S-EPMC10393399 | biostudies-literature
UnknownATP1A3 Mutation in Adult Rapid-Onset Ataxia.
Not available
S-EPMC4798776 | biostudies-literature
UnknownGenetically altered animal models for ATP1A3-related disorders.
Not available
S-EPMC8503543 | biostudies-literature
UnknownIntermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Not available
S-EPMC4578012 | biostudies-literature
UnknownATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.
Not available
S-EPMC11247502 | biostudies-literature
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