Features include always present findings: Renal magnesium wasting, Generalized-onset seizure, Seizure, and Global developmental delay and others; and common findings: Status epilepticus, Self-biting, Enlarged brain ventricles (ventriculomegaly), and Hyperactivity and others. 13 total HPO annotations.

ATP1A1 encodes ATPase Na+/K+ transporting subunit alpha 1 (1,023 aa). This is the catalytic component of the active enzyme, which catalyzes the hydrolysis of ATP coupled with the exchange of sodium and potassium ions across the plasma membrane. Highest expression in Thyroid (605.9 TPM) and Brain Cerebellar Hemisphere (554.5 TPM).

Hypomagnesemia, seizures, and intellectual disability 2 is associated with mutations in the ATP1A1 gene on chromosome 1.

The ATP1A1 protein participates in ATP1A:ATP1B:FXYD exchanges 3Na+ for 2K+ pathway.

ATP1A1 is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Ion Channel, and Transporter categories) with score 10.4.

Genetic testing for ATP1A1 is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 6 always present features, 5 common features.

No clinical trials have been registered for hypomagnesemia, seizures, and intellectual disability 2.

2 publications have been identified in PubMed for hypomagnesemia, seizures, and intellectual disability 2. Research spans Review / Meta-Analysis (50%) and Basic Science / Preclinical (50%).

Recent Publications

• Li H (2025). [PMID: 40612795](https://pubmed.ncbi.nlm.nih.gov/40612795/). *Front Genet*. [Basic Science / Preclinical]

• Kröse JL (2024). [PMID: 38871680](https://pubmed.ncbi.nlm.nih.gov/38871680/). *Nephrol Dial Transplant*. [Review / Meta-Analysis]