The KCNQ2 gene encodes voltage-gated potassium channel subunits that underlie the M-current,
a repolarizing current that limits repetitive firing during long-lasting depolarizing
inputs [
[1]
]. Mutations in this gene can result in disorders ranging from benign familial neonatal
convulsions (BFNC) to early infantile developmental and epileptic encephalopathy (EIDEE)
[
[2]
].Keywords
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References
- KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel.Science. 1998; 282: 1890-1893
- Characteristics of KCNQ2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy.Epilepsia. 2019; 60: 1870-1880
- Clinical study of 30 novel KCNQ2 variants/deletions in KCNQ2-related disorders.Front Mol Neurosci. 2022; 15809810
- A common ankyrin-G-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon.J Neurosci. 2006; 26: 2599-2613
Article info
Publication history
Published online: March 12, 2023
Accepted:
March 11,
2023
Received in revised form:
March 2,
2023
Received:
November 22,
2022
Publication stage
In Press Journal Pre-ProofIdentification
Copyright
© 2023 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.
