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Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.

Genes & genomics - 1 Apr 2024

Muthaffar Osama Y, Alqarni Asma, Shafei Jumana A, Bahowarth Sarah Y, Alyazidi Anas S, Naseer Muhammad Imran

Abstract excerpt

BACKGROUND: ATP1A3 is a gene that encodes the ATPase Na + /K + transporting subunit alpha-3 isoenzyme that is widely expressed in GABAergic neurons. It maintains metabolic balance and neurotransmitter movement. These pathways are essential for the proper functioning of the nervous system. A mutation in the ATP1A3 gene demonstrates remarkable genotype-phenotype heterogeneity. OBJECTIVES: To provide insight into...

Topics

Male
Female
Infant, Newborn
Humans
Child
Infant
Child, Preschool
Phenotype
Mutation
Genotype
Sodium-Potassium-Exchanging ATPase
Seizures

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 38243045
DOI: 10.1007/s13258-023-01481-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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