Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.V182G
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KCNQ2

NM_172107.4:p.V182G

Associated Papers

Cerebellar Hypoplasia and Treatment Course of a Two-Month-Old Infant With KCNQ2 Epileptic Encephalopathy Due to a De Novo Variant and Review of the Literature.

Cebeci D et al.

American Journal of Medical Genetics. Part A, 2025

Pointed rhythmic theta waves: a unique EEG pattern in KCNQ2-related neonatal epileptic encephalopathy.

Buttle SG et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2017

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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."