KCNB1 frameshift variant caused inherited intellectual disability, developmental delay, and seizure.
KCNB1
epilepsy
intellectual disability
intrafamilial phenotypic variability
Journal
Intractable & rare diseases research
ISSN: 2186-3644
Titre abrégé: Intractable Rare Dis Res
Pays: Japan
ID NLM: 101586847
Informations de publication
Date de publication:
Nov 2022
Nov 2022
Historique:
received:
30
08
2022
revised:
07
10
2022
accepted:
19
10
2022
entrez:
2
12
2022
pubmed:
3
12
2022
medline:
3
12
2022
Statut:
ppublish
Résumé
Potassium voltage-gated channel subfamily B member 1 (
Identifiants
pubmed: 36457583
doi: 10.5582/irdr.2022.01096
pmc: PMC9709620
doi:
Types de publication
Journal Article
Langues
eng
Pagination
219-221Informations de copyright
2022, International Research and Cooperation Association for Bio & Socio - Sciences Advancement.
Déclaration de conflit d'intérêts
The authors have no conflicts of interest to disclose.
Références
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JAMA Neurol. 2017 Oct 1;74(10):1228-1236
pubmed: 28806457
Hum Mutat. 2020 Jan;41(1):69-80
pubmed: 31513310
Neuron. 2015 Jan 21;85(2):238-56
pubmed: 25611506
Seizure. 2017 Jan;44:11-20
pubmed: 28007376
Neurol Sci. 2021 Oct;42(10):4325-4327
pubmed: 34176003