A founder mutation in the
PLPBP
PROSC
vitamin B6‐dependent early‐onset epilepsy
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
24
06
2020
revised:
19
11
2020
accepted:
16
12
2020
entrez:
12
5
2021
pubmed:
13
5
2021
medline:
13
5
2021
Statut:
epublish
Résumé
Pyridoxine-dependent epilepsy (PDE) is a relatively rare subgroup of epileptic disorders. They generally present in infancy as an early onset epileptic encephalopathy or seizures, refractory to standard treatments, with rapid and variable responses to vitamin B6 treatment. Whole exome sequencing of three unrelated families identified homozygous pathogenic mutation c.370_373del, p.Asp124fs in
Identifiants
pubmed: 33977028
doi: 10.1002/jmd2.12196
pii: JMD212196
pmc: PMC8100403
doi:
Types de publication
Journal Article
Langues
eng
Pagination
32-41Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
The authors declare no potential conflict of interest.
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