Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy w...
Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis: For the China Epilepsy Gene 1.0 Project
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Author / Creator
Shen, Nanxiang , Zhuo, Zhihong , Luo, Xiangyun , Li, Bingmei , Lin, Xuqing , Luo, Sheng , Ye, Zilong , Wang, Pengyu , He, Na , Shi, Yiwu and Liao, Weiping
Publisher
England: BioMed Central
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central
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Scope and Contents
Contents
The TSC1 gene encodes a growth inhibitory protein hamartin, which plays a crucial role in negative regulation of the activity of mTORC1 (mechanistic target of rapamycin complex 1). TSC1 has been associated with tuberous sclerosis complex (TSC). This study aims to investigate the association between TSC1 variants and common epilepsy.
Trio-based w...
Alternative Titles
Full title
Variants of TSC1 are associated with developmental and epileptic encephalopathy and focal epilepsy without tuberous sclerosis: For the China Epilepsy Gene 1.0 Project
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11960315
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11960315
Other Identifiers
ISSN
2096-9384,2524-4434
E-ISSN
2524-4434
DOI
10.1186/s42494-024-00189-w
