Vertical nystagmus as a feature of PIGN-related glycosylphosphatidylinositol biosynthesis defects.
Developmental encephalopathy with epilepsy
PIGN gene
Vertical nystagmus
Journal
Clinical neurology and neurosurgery
ISSN: 1872-6968
Titre abrégé: Clin Neurol Neurosurg
Pays: Netherlands
ID NLM: 7502039
Informations de publication
Date de publication:
09 2020
09 2020
Historique:
received:
10
03
2020
revised:
16
06
2020
accepted:
17
06
2020
pubmed:
26
6
2020
medline:
12
6
2021
entrez:
26
6
2020
Statut:
ppublish
Résumé
Vertical nystagmus is a known clinical feature, is however rarely observed in a specific neurodevelopmental disorder. Based on our experience with Polish patients with glycosylphosphatidylinositol biosynthesis defects (GPIBD) due to PIGN variants, supported by literature review, we have verified the clinical significance of this feature in PIGN-related disorder. We hope to underline the clinical implication of vertical nystagmus in the evaluation of patients with developmental encephalopathy with epilepsy, which may accelerate the neurological diagnosis process by orientating it towards PIGN-GPIBD.
Identifiants
pubmed: 32585529
pii: S0303-8467(20)30376-0
doi: 10.1016/j.clineuro.2020.106033
pii:
doi:
Substances chimiques
Glycosylphosphatidylinositols
0
PIGN protein, human
EC 2.7.-
Phosphotransferases
EC 2.7.-
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
106033Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.