Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.W157*
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KCNQ2

NM_172107.4:p.W157*

Associated Papers

Identifying mutation hotspots reveals pathogenetic mechanisms of KCNQ2 epileptic encephalopathy.

Zhang J et al.

Scientific Reports, 2020

32179837 (PubMed )
Supplement: 41598_2020_61697_MOESM2_ESM.pdf

KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients.

Millichap JJ et al.

Neurology. Genetics, 2016

27602407 (PubMed )
Supplement: supp_2.5.e96_tables.docx

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2.

Milh M et al.

Orphanet Journal of Rare Diseases, 2013

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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."