Overlapping cortical malformations in patients with pathogenic variants in
Genetics
Nervous System Malformations
Pathology
Pediatrics
Radiology
Journal
Journal of medical genetics
ISSN: 1468-6244
Titre abrégé: J Med Genet
Pays: England
ID NLM: 2985087R
Informations de publication
Date de publication:
02 2023
02 2023
Historique:
received:
13
05
2021
accepted:
16
03
2022
pubmed:
9
4
2022
medline:
27
1
2023
entrez:
8
4
2022
Statut:
ppublish
Résumé
Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in We report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in Heterozygous variants in These findings expand our understanding of the clinical and imaging features of the 'NMDARopathy' spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients.
Sections du résumé
BACKGROUND
Malformations of cortical development (MCDs) have been reported in a subset of patients with pathogenic heterozygous variants in
METHODS
We report the clinical, radiological and molecular features of 7 new patients and review data on 18 previously reported individuals with NMDAR-related MCDs. Neuropathological findings for two individuals with heterozygous variants in
RESULTS
Heterozygous variants in
CONCLUSION
These findings expand our understanding of the clinical and imaging features of the 'NMDARopathy' spectrum and contribute to our understanding of the likely underlying pathogenic mechanisms leading to MCD in these patients.
Identifiants
pubmed: 35393335
pii: jmedgenet-2021-107971
doi: 10.1136/jmedgenet-2021-107971
pmc: PMC10642159
mid: NIHMS1941580
doi:
Substances chimiques
GRIN1 protein, human
0
Nerve Tissue Proteins
0
Receptors, N-Methyl-D-Aspartate
0
NR2B NMDA receptor
0
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
183-192Subventions
Organisme : NICHD NIH HHS
ID : R01 HD082373
Pays : United States
Organisme : Medical Research Council
ID : MC_PC_16035
Pays : United Kingdom
Organisme : NIA NIH HHS
ID : R21 AG072142
Pays : United States
Organisme : Department of Health
ID : RP-2016- 07-011
Pays : United Kingdom
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NINDS NIH HHS
ID : R35 NS111619
Pays : United States
Organisme : NIMH NIH HHS
ID : R21 MH127404
Pays : United States
Informations de copyright
© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: SFT is principal investigator on research grants from Biogen and Janssen to Emory; a member of the Scientific Advisory Board for Eumentis, Sage Therapeutics, GRIN2B Foundation and CureGRIN Foundation; co-founder of NeurOp and Agrithera; and coinventor on Emory-owned intellectual property.
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