Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.P470S
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KCNC2

NM_139137.4:p.P470S

Associated Papers

Voltage-gated potassium channels as a potential therapeutic target for the treatment of neurological and psychiatric disorders.

Faulkner IE et al.

Frontiers in Cellular Neuroscience, 2024

Novel KCNC2 variant associated with developmental and epileptic encephalopathy.

Huo L et al.

International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2023

Investigation of novel de novo KCNC2 variants causing severe developmental and early-onset epileptic encephalopathy.

Li L et al.

Seizure, 2022

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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."