Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.L292_L293delins
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KCNQ2

NM_172107.4:p.L292_L293delins

Associated Papers

Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.

Sundberg M et al.

Neurobiology of Disease, 2025

Combining Off-flow, a Nextflow-coded program, and whole genome sequencing reveals unintended genetic variation in CRISPR/Cas-edited iPSCs.

Shum C et al.

Computational and Structural Biotechnology Journal, 2024

Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy.

Knight D et al.

Epilepsia, 2023

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