Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.G281E
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KCNQ2

NM_172107.4:p.G281E

Associated Papers

KCNQ2 mutations cause unique neonatal behavior arrests without motor seizures: Functional characterization.

Wong SH et al.

Epilepsy & Behavior : E&b, 2024

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

Knight D et al.

Epilepsia, 2023

KCNQ2 Selectivity Filter Mutations Cause Kv7.2 M-Current Dysfunction and Configuration Changes Manifesting as Epileptic Encephalopathies and Autistic Spectrum Disorders.

Lee IC et al.

Cells, 2022

Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy.

Lee IC et al.

Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2021

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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."