A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity.
Journal
Molecular psychiatry
ISSN: 1476-5578
Titre abrégé: Mol Psychiatry
Pays: England
ID NLM: 9607835
Informations de publication
Date de publication:
02 2019
02 2019
Historique:
received:
12
09
2017
accepted:
06
03
2018
revised:
22
01
2018
pubmed:
13
6
2018
medline:
7
1
2020
entrez:
13
6
2018
Statut:
ppublish
Résumé
Epilepsy and Mental Retardation Limited to Females (EFMR) is an infantile onset disorder characterized by clusters of seizures. EFMR is due to mutations in the X-chromosome gene PCDH19, and is underpinned by cellular mosaicism due to X-chromosome inactivation in females or somatic mutation in males. This review characterizes the neuropsychiatric profile of this disorder and examines the association of clinical and molecular factors with neuropsychiatric outcomes. Data were extracted from 38 peer-reviewed original articles including 271 individual cases. We found that seizure onset ≤12 months was significantly associated (p = 4.127 × 10
Identifiants
pubmed: 29892053
doi: 10.1038/s41380-018-0066-9
pii: 10.1038/s41380-018-0066-9
pmc: PMC6344372
doi:
Substances chimiques
Cadherins
0
PCDH19 protein, human
0
Protocadherins
0
Types de publication
Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't
Systematic Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
241-251Références
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