Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.T364M
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ATP1A2

NM_000702.4:p.T364M

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM1_ESM.xlsx › Sheet1

Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.

Bar O et al.

Frontiers in Neurology, 2023

37234784 (PubMed )
Supplement: Table_1.XLSX › Supplemantary_Table_1

The Usefulness of a Targeted Next Generation Sequencing Gene Panel in Providing Molecular Diagnosis to Patients With a Broad Spectrum of Neurodevelopmental Disorders.

Mellone S et al.

Frontiers in Genetics, 2022

36035117 (PubMed )
Supplement: Table2.pdf

Prevalence of Congenital Disorders of Glycosylation in Childhood Epilepsy and Effects of Anti-Epileptic Drugs on the Transferrin Isoelectric Focusing Test.

Silver G et al.

Genes, 2021

34440401 (PubMed )
Supplement: genes-12-01227-s001.zip › genes-1234092-supplementary.pdf

Serial magnetic resonance imaging findings during severe attacks of familial hemiplegic migraine type 2: a case report.

Fear D et al.

Bmc Neurology, 2021

Epilepsy in hemiplegic migraine: Genetic mutations and clinical implications.

Prontera P et al.

Cephalalgia : an International Journal of Headache, 2018

Biotin and Acetazolamide for Treatment of an Unusual Child With Autism Plus Lack of Nail and Hair Growth.

Benke PJ et al.

Pediatric Neurology, 2018

Recurrent coma and fever in familial hemiplegic migraine type 2. A prospective 15-year follow-up of a large family with a novel ATP1A2 mutation.

Pelzer N et al.

Cephalalgia : an International Journal of Headache, 2017

Familial Hemiplegic Migraine with Severe Attacks: A New Report with ATP1A2 Mutation.

Martínez E et al.

Case Reports in Neurological Medicine, 2016

Multimodal neuroimaging in a child with sporadic hemiplegic migraine: a contribution to understanding pathogenesis.

Toldo I et al.

Cephalalgia : an International Journal of Headache, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."