Varaico: Literature-Extracted Genetic Variants

Gene:KCNT1
Variant:p.R398L
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KCNT1

NM_020822.3:p.R398L

Associated Papers

New use for an old drug: quinidine in KCNT1-related epilepsy therapy.

Liu R et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023

Precision therapy with quinidine of KCNT1-related epileptic disorders: A systematic review.

Xu D et al.

British Journal of Clinical Pharmacology, 2022

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Bonardi CM et al.

Brain : a Journal of Neurology, 2021

The Functional Properties, Physiological Roles, Channelopathy and Pharmacological Characteristics of the Slack (KCNT1) Channel.

Zhang Q et al.

Advances in Experimental Medicine and Biology, 2021

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2019

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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."