Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.V136del1
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KCNQ2

NM_172107.4:p.V136del1

Associated Papers

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.

Bidwell JS et al.

Epilepsia Open, 2025

Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.

Lan X et al.

Jama Network Open, 2025

40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1

Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.

Duan J et al.

Brain : a Journal of Neurology, 2022

35231114 (PubMed )
Supplement: awac053_supplementary_data.zip › brain-2021-02368-File005.pdf
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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."