Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy.
Journal
Neuropediatrics
ISSN: 1439-1899
Titre abrégé: Neuropediatrics
Pays: Germany
ID NLM: 8101187
Informations de publication
Date de publication:
10 2020
10 2020
Historique:
pubmed:
12
5
2020
medline:
24
8
2021
entrez:
12
5
2020
Statut:
ppublish
Résumé
Patients with neurofibromatosis type 1 (NF1) have an increased risk for West syndrome (WS), but the underlying mechanisms linking NF1 and WS are unknown. In contrast to other neurocutaneous syndromes, intracerebral abnormalities explaining the course of infantile spasms (IS) are often absent and the seizure outcome is usually favorable. Several studies have investigated a potential genotype-phenotype correlation between
Identifiants
pubmed: 32392612
doi: 10.1055/s-0040-1710524
doi:
Substances chimiques
KCNC2 protein, human
0
Shaw Potassium Channels
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
368-372Commentaires et corrections
Type : CommentIn
Informations de copyright
Thieme. All rights reserved.
Déclaration de conflit d'intérêts
None declared.