Clinical and genetic characteristics of patients with Doose syndrome.
Doose syndrome
HNRNPU
SLC6A1
STS
comorbidity
Journal
Epilepsia open
ISSN: 2470-9239
Titre abrégé: Epilepsia Open
Pays: United States
ID NLM: 101692036
Informations de publication
Date de publication:
Sep 2020
Sep 2020
Historique:
received:
23
01
2020
revised:
19
06
2020
accepted:
28
06
2020
entrez:
11
9
2020
pubmed:
12
9
2020
medline:
12
9
2020
Statut:
epublish
Résumé
To elucidate the genetic background and genotype-phenotype correlations for epilepsy with myoclonic-atonic seizures, also known as myoclonic-astatic epilepsy (MAE) or Doose syndrome. We collected clinical information and blood samples from 29 patients with MAE. We performed whole-exome sequencing for all except one MAE case in whom custom capture sequencing identified a variant. We newly identified four variants: MAE patients had genetic heterogeneity, and
Identifiants
pubmed: 32913952
doi: 10.1002/epi4.12417
pii: EPI412417
pmc: PMC7469791
doi:
Types de publication
Journal Article
Langues
eng
Pagination
442-450Informations de copyright
© 2020 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.
Déclaration de conflit d'intérêts
None of the authors has any conflict of interest to disclose. We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.
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