Varaico: Literature-Extracted Genetic Variants

Gene:SCN9A
Variant:p.P149Q
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SCN9A

NM_001365536.1:p.P149Q

Associated Papers

SCN9A should not be considered an epilepsy gene; Refuting a gene-disease association.

Ghanty I et al.

Epilepsia, 2025

Unwinding and spiral sliding of S4 and domain rotation of VSD during the electromechanical coupling in Nav1.7.

Huang G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35878056 (PubMed )
Supplement: pnas.2209164119.sapp.pdf

Sodium voltage-gated channel alpha subunit 9 mutation in epilepsy.

Albaradie R et al.

European Review for Medical and Pharmacological Sciences, 2021

No association between SCN9A and monogenic human epilepsy disorders.

Fasham J et al.

Plos Genetics, 2020

Short-lasting unilateral neuralgiform headache attacks with ispilateral facial flushing is a new variant of paroxysmal extreme pain disorder.

Imai N et al.

The Journal of Headache and Pain, 2015

SCN9A: another sodium channel excited to play a role in human epilepsies.

Doty CN

Clinical Genetics, 2010

A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome.

Singh NA et al.

Plos Genetics, 2009

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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."