Varaico: Literature-Extracted Genetic Variants

Gene:SCN1A
Variant:p.L1624Q
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SCN1A

NM_001165963.4:p.L1624Q

Associated Papers

Late sodium current: incomplete inactivation triggers seizures, myotonias, arrhythmias, and pain syndromes.

Fouda MA et al.

The Journal of Physiology, 2022

The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function.

Jones LB et al.

Frontiers in Pharmacology, 2021

Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Oates S et al.

Npj Genomic Medicine, 2018

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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."