Varaico: Literature-Extracted Genetic Variants

Gene:KCNC2
Variant:p.I465V
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KCNC2

NM_139137.4:p.I465V

Associated Papers

Case Report: Targeted treatment by fluoxetine/norfluoxetine of a KCNC2 variant causing developmental and epileptic encephalopathy.

Li P et al.

Frontiers in Pharmacology, 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

KCNC2 variants of uncertain significance are also associated to various forms of epilepsy.

Seiffert S et al.

Frontiers in Neurology, 2023

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants.

Schwarz N et al.

Neurology, 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."