Pathogenic
Journal
Neurology
ISSN: 1526-632X
Titre abrégé: Neurology
Pays: United States
ID NLM: 0401060
Informations de publication
Date de publication:
11 07 2023
11 07 2023
Historique:
received:
10
10
2022
accepted:
26
01
2023
pmc-release:
11
07
2024
medline:
12
7
2023
pubmed:
5
4
2023
entrez:
4
4
2023
Statut:
ppublish
Résumé
To describe a child meeting diagnostic criteria for tuberous sclerosis complex (TSC) carrying a pathogenic somatic variant in We present the clinical and imaging findings in a child presenting with drug-resistant focal seizures and multiple cortical tubers, a subependymal giant cell astrocytoma and multiple subependymal nodules in 1 cerebral hemisphere. Targeted panel sequencing and exome sequencing were performed on genomic DNA derived from blood and resected tuber tissue. The child satisfied clinical diagnostic criteria for TSC, having 3 major features, only 2 of which are required for diagnosis. Genetic testing did not identify pathogenic variants or copy number variations in RHEB is a partner of the TSC1/2 complex in the mechanistic target of rapamycin pathway. Somatic variants in
Identifiants
pubmed: 37015817
pii: WNL.0000000000207177
doi: 10.1212/WNL.0000000000207177
pmc: PMC10351555
doi:
Substances chimiques
Tumor Suppressor Proteins
0
Tuberous Sclerosis Complex 1 Protein
0
Tuberous Sclerosis Complex 2 Protein
0
RHEB protein, human
0
Ras Homolog Enriched in Brain Protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
78-82Informations de copyright
© 2023 American Academy of Neurology.
Références
Gigascience. 2018 Oct 1;7(10):
pubmed: 30192941
Clin EEG Neurosci. 2018 May;49(3):187-191
pubmed: 28762286
Hum Genet. 2010 Mar;127(5):573-82
pubmed: 20165957
Cell Rep. 2017 Dec 26;21(13):3754-3766
pubmed: 29281825
Pediatr Neurol. 2021 Oct;123:50-66
pubmed: 34399110
Exp Mol Med. 2019 Jul 23;51(7):1-11
pubmed: 31337748
Nat Cell Biol. 2003 Jun;5(6):578-81
pubmed: 12771962
Neurology. 2020 Nov 3;95(18):e2542-e2551
pubmed: 32847954
Am J Hum Genet. 2017 Mar 2;100(3):454-472
pubmed: 28215400
PLoS Biol. 2021 May 26;19(5):e3001279
pubmed: 34038402
Acta Neuropathol. 2019 Dec;138(6):885-900
pubmed: 31444548
Eur J Hum Genet. 2005 Jun;13(6):695-6
pubmed: 15912141
Ann Clin Transl Neurol. 2021 Feb;8(2):485-490
pubmed: 33434304
PLoS Genet. 2015 Nov 05;11(11):e1005637
pubmed: 26540169
Am J Hum Genet. 2001 Jan;68(1):64-80
pubmed: 11112665