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

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

Recently, de novo variants in KCNC2, coding for the potassium channel subunit KV3.2, have been described as causative for various forms of epilepsy including genetic generalized epilepsy (GGE) and developmental and epileptic encephalopathy (DEE). Here, we report the functional characteristics of thr...

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Bibliographic Details
Main Authors: Simone Seiffert, Manuela Pendziwiat, Ulrike B. S. Hedrich, Ingo Helbig, Yvonne Weber, Niklas Schwarz
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Neurology
Subjects:
potassium channel
developmental and epileptic encephalopathy
KCNC2 electrophysiology
functional analysis
precision medicine
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.1212079/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.1212079/full

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