Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ3
Variant:p.T313I
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KCNQ3

NM_004519.4:p.T313I

Associated Papers

Voltage-gated potassium channels and genetic epilepsy.

Zheng Y et al.

Frontiers in Neurology, 2024

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates.

Pijpers JA et al.

Seizure, 2023

Predicting the functional effects of voltage-gated potassium channel missense variants with multi-task learning.

Boßelmann CM et al.

Ebiomedicine, 2022

35759918 (PubMed )
Supplement: mmc1.pdf

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I.

Maghera J et al.

Epilepsia Open, 2020

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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."