Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Dec 2019
Dec 2019
Historique:
received:
22
12
2018
accepted:
04
09
2019
entrez:
25
12
2019
pubmed:
25
12
2019
medline:
25
12
2019
Statut:
epublish
Résumé
To report new sporadic cases and 1 family with epilepsy of infancy with migrating focal seizures (EIMFSs) due to KCNT1 gain-of-function and to assess therapies' efficacy including quinidine. We reviewed the clinical, EEG, and molecular data of 17 new patients with EIMFS and The mean seizure onset age was 1 month (range: 1 hour to 4 months), and all children had focal motor seizures with autonomic signs and migrating ictal pattern on EEG. Three children also had infantile spasms and hypsarrhythmia. The identified The majority of the
Identifiants
pubmed: 31872048
doi: 10.1212/NXG.0000000000000363
pii: NG2018009845
pmc: PMC6878841
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e363Informations de copyright
Copyright © 2019 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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