Clinical spectrum of
Adolescent
Anticonvulsants
/ therapeutic use
Child
Child, Preschool
Developmental Disabilities
Drug Resistant Epilepsy
/ genetics
Electroencephalography
Epilepsies, Partial
/ genetics
Epileptic Syndromes
/ drug therapy
Female
High-Throughput Nucleotide Sequencing
Humans
Infant
Infant, Newborn
Learning Disabilities
Loss of Function Mutation
Male
Mutation, Missense
Phenotype
Seizures, Febrile
Sequence Analysis, DNA
Syntaxin 1
/ genetics
Young Adult
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
12 03 2019
12 03 2019
Historique:
received:
05
04
2018
accepted:
04
11
2018
pubmed:
10
2
2019
medline:
18
12
2019
entrez:
10
2
2019
Statut:
ppublish
Résumé
The aim of this study was to expand the spectrum of epilepsy syndromes related to We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. We describe 17 new variants in These data expand the genetic and phenotypic spectrum of
Identifiants
pubmed: 30737342
pii: WNL.0000000000007089
doi: 10.1212/WNL.0000000000007089
pmc: PMC6511102
doi:
Substances chimiques
Anticonvulsants
0
STX1B protein, human
0
Syntaxin 1
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
e1238-e1249Subventions
Organisme : NINDS NIH HHS
ID : U01 NS077274
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS077364
Pays : United States
Organisme : NINDS NIH HHS
ID : U01 NS077303
Pays : United States
Organisme : Medical Research Council
ID : MR/J011231/1
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : U01 NS077276
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Informations 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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