Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.I205F
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KCNQ2

NM_172107.4:p.I205F

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

KCNQ2-Related Epilepsy: Genotype-Phenotype Relationship with Tailored Antiseizure Medication (ASM)-A Systematic Review.

Falsaperla R et al.

Neuropediatrics, 2023

Sodium channel blockers in KCNQ2-encephalopathy: Lacosamide as a new treatment option.

Schubert-Bast S et al.

Seizure, 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."