ArticleAmerican journal of human genetics2018
Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 92 citations in OpenAlex.
- Imputation of fluid intelligence scores reduces ascertainment bias and increases power for analyses of common and rare variants.Nature genetics · 2026Article
- Mechanism of Rescue of NaInternational journal of molecular sciences · 2026Article
- On the mechanism of hypomagnesemia with treatment-resistant seizures caused by variants of the Na+,K+-ATPase α1 subunit (ATP1A1).The Journal of general physiology · 2026Article
- Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.American journal of medical genetics. Part A · 2026Article
- Molecular Basis of Rare Inherited Tubulopathies of the Kidney: A Primer for Clinicians.International journal of molecular sciences · 2026Review
- Single-cell atlas of the developing Down syndrome brain cortex.Nature medicine · 2026Article
- Exploring necroptosis-associated genes: implications for immune responses and therapeutic strategies in diabetic foot ulcers.Archives of medical science : AMS · 2026Article
- Ion dynamics underlying the seizure delay effect of low-frequency electrical stimulation.PLoS computational biology · 2025Article
- Association of the RecurrentNeurology. Genetics · 2025Article
- The Quaternary Structure of the Sodium Pump Regulatory Complex Is Altered by Mutations of a Site Associated with Familial Hemiplegic Migraine.Molecular neurobiology · 2025Article
- LncDARS-AS1 Regulates ATP1A1 Stability and Enhances NaAdvanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Evaluation of familial phenotype deviation to measure the impact of de novo mutations in autism.Genome medicine · 2025Article
- Unveiling the role of Na⁺/K⁺-ATPase pump: neurodegenerative mechanisms and therapeutic horizons.Pharmacological reports : PR · 2025Review
- Whole genome sequencing reveals candidate causal genetic variants for spastic syndrome in Holstein cattle.Scientific reports · 2024Article
- Navigating the multifaceted intricacies of the NaPhysiological reviews · 2024Review
- Paroxysmal Kinesigenic Dyskinesia: Genetics and Pathophysiological Mechanisms.Neuroscience bulletin · 2024Review
- Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.Journal of neurology · 2024Review
- Recurrent ATP1A1 variant Gly903Arg causes developmental delay, intellectual disability, and autism.Annals of clinical and translational neurology · 2024Article
- ATP1A1-linked diseases require a malfunctioning protein product from one allele.Biochimica et biophysica acta. Molecular cell research · 2024Article
- Primary aldosteronism: molecular medicine meets public health.Nature reviews. Nephrology · 2023Review
Corrections and comments
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Authors and funding
21 authors at 8 institutions in 6 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Over the last decades, a growing spectrum of monogenic disorders of human magnesium homeostasis has been clinically characterized, and genetic studies in affected individuals have identified important molecular components of cellular and epithelial magnesium transport. Here, we describe three infants who are from non-consanguineous families and who presented with a disease phenotype consisting of generalized seizures in infancy, severe hypomagnesemia, and renal magnesium wasting. Seizures persisted despite magnesium supplementation and were associated with significant intellectual disability. Whole-exome sequencing and conventional Sanger sequencing identified heterozygous de novo mutations in the catalytic Na
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.