De novo mutations of
epilepsy
genomics
human genetics
neuromuscular diseases
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
11 2021
11 2021
Historique:
received:
08
05
2020
revised:
02
08
2020
accepted:
06
08
2020
pubmed:
16
9
2020
medline:
22
2
2022
entrez:
15
9
2020
Statut:
ppublish
Résumé
Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement. Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missense variants in AMC was diagnosed from the second trimester of pregnancy in the three patients. One of them developed drug-resistant epileptic seizures from birth. We showed that We show for the first time that
Sections du résumé
BACKGROUND
Arthrogryposis multiplex congenita (AMC) is the direct consequence of reduced fetal movements. AMC includes a large spectrum of diseases which result from variants in genes encoding components required for the formation or the function of the neuromuscular system. AMC may also result from central nervous involvement.
METHODS
Whole-exome sequencing was performed from DNA of the index case of AMC families. Heterozygous missense variants in
RESULTS
AMC was diagnosed from the second trimester of pregnancy in the three patients. One of them developed drug-resistant epileptic seizures from birth. We showed that
CONCLUSION
We show for the first time that
Identifiants
pubmed: 32928894
pii: jmedgenet-2020-107166
doi: 10.1136/jmedgenet-2020-107166
pmc: PMC8551978
doi:
Substances chimiques
NAV1.1 Voltage-Gated Sodium Channel
0
SCN1A protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
737-742Informations de copyright
© Author(s) (or their employer(s)) 2021. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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