Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.T378I
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ATP1A2

NM_000702.4:p.T378I

Associated Papers

Familial hemiplegic migraine type 2: a case report of an adolescent with ATP1A2 mutation.

Zhang H et al.

Frontiers in Neurology, 2024

A Case Report of Hemiplegic Migraine with Mutation in the ATP1A2 Gene.

Guan DM et al.

Pharmacogenomics and Personalized Medicine, 2024

Cognitive dysfunction in a patient with migraine and APT1A2 mutation: a case report.

Wang P et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Comprehensive Exonic Sequencing of Hemiplegic Migraine-Related Genes in a Cohort of Suspected Probands Identifies Known and Potential Pathogenic Variants.

Sutherland HG et al.

Cells, 2020

Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.

Truty R et al.

Epilepsia Open, 2019

31440721 (PubMed )
Supplement: EPI4-4-397-s003.xlsx › SupplementaryTable2

Intravenous Immunoglobulin in the Treatment of Alternating Hemiplegia of Childhood.

Samanta D et al.

Clinical Neuropharmacology, 0

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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."