ArticleMolecular genetics & genomic medicine2022
Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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6 citing papers in PubMed, 8 citations in OpenAlex.
- Dynamic relationship and pleiotropic loci of attention deficit hyperactivity disorder with sleep traits.Translational psychiatry · 2026Article
- Dysmorphic neurons express markers of inhibitory glycinergic signaling in focal cortical dysplasia IIb.Brain pathology (Zurich, Switzerland) · 2026Article
- Genotypic and clinical phenotypic analysis of DEPDC5 gene mutations.Neurogenetics · 2025Article
- The phenotypic and genetic spectrum of AKT3-related neurodevelopmental condition.Scientific reports · 2025Article
- Focal cortical dysplasia type II: review of neuropathological manifestations and pathogenetic mechanisms.Acta epileptologica · 2025Review
- Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
9 authors at 1 institution in 1 country.
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Abstract
backgroundFocal cortical dysplasia type 2 (FCD2) is a malformation of cortical development that constitutes a common cause of pediatric focal epilepsy. Germline or somatic variants in the mammalian target of rapamycin (mTOR) signaling pathway genes are the pathogenesis of FCD2.
objectiveIn this study, whole-exome deep sequencing was performed on dysplastic cortex from focal epilepsy in children to explore genetic characteristics in FCD2.
methodsResected core lesions of FCD2 were confirmed by pathology, and peripheral blood was collected from 11 patients. Deep whole-exome sequencing (>500X) was performed on derived genomic DNA, germline, or somatic variants in brain-specific genes were analyzed and identified.
resultsIn 11 patients, a heterozygous likely pathogenic germline variant of DEPDC5 was identified in one case, while somatic variants were found in four brain samples. The frequencies of the somatic variant allele were 2.52%-5.12%. Somatic variants in AKT3, TSC2, and MTOR (mTOR signaling pathway genes) were found in three samples. Besides, one somatic variant was detected in MED12 which has not been reported to associate with FCD2.
conclusionOur study expanded the variant spectrum in the mTOR-GATOR pathway, and also detected a somatic variant in MED12 which was potentially associated with FCD 2.
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