Varaico: Literature-Extracted Genetic Variants

Gene:SCN1B
Variant:p.E177A
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SCN1B

NM_001037.5:p.E177A

Associated Papers

Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' families.

Oliver KL et al.

Ebiomedicine, 2024

39476534 (PubMed )
Supplement: mmc1.docx

Ion Channel Genes and Epilepsy: Functional Alteration, Pathogenic Potential, and Mechanism of Epilepsy.

Wei F et al.

Neuroscience Bulletin, 2017

mRNA surveillance and endoplasmic reticulum quality control processes alter biogenesis of mutant GABAA receptor subunits associated with genetic epilepsies.

Macdonald RL et al.

Epilepsia, 2012

Genetic variations and associated pathophysiology in the management of epilepsy.

Mulley JC et al.

The Application of Clinical Genetics, 2011

Mutations in GABAA receptor subunits associated with genetic epilepsies.

Macdonald RL et al.

The Journal of Physiology, 2010

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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."