Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A2
Variant:p.T339_V340Splc
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ATP1A2

NM_000702.4:p.T339_V340Splc

Associated Papers

Shared genetics in epilepsy and migraine: A scoping review.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.

Panagiotakaki E et al.

European Journal of Human Genetics : Ejhg, 2024

Early onset severe ATP1A2 epileptic encephalopathy: Clinical characteristics and underlying mutations.

Moya-Mendez ME et al.

Epilepsy & Behavior : E&b, 2021

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