ArticleNeurology. Genetics2022
Genetic Testing for Malformations of Cortical Development: A Clinical Diagnostic Study.
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Article in Neurology. Genetics, 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.
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- Juvenile Myoclonic Epilepsy Imaging Endophenotypes and Relationship With Cognition and Resting-State EEG.Human brain mapping · 2025Article
- A new perspective on drug-resistant epilepsy in children with focal cortical dysplasia type 1: From challenge to favorable outcome.Epilepsia · 2025Article
- Analysis of 1386 epileptogenic brain lesions reveals association with DYRK1A and EGFR.Nature communications · 2024Article
- Technological and computational approaches to detect somatic mosaicism in epilepsy.Neurobiology of disease · 2023Review
- COL4A1 mutation-related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria.Epilepsia open · 2023Article
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Authors and funding
14 authors.
Barbora StrakaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.ORCID https://orcid.org/0000-0001-8448-2833
Barbora HermanovskaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Lenka KrskovaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Josef ZamecnikDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Marketa VlckovaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Miroslava BalascakovaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Pavel TesnerDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Petr JezdikDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Michal TichyDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Martin KynclDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Alena MusilovaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Petra LassuthovaDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Petr MarusicDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.
Pavel KrsekDepartment of Paediatric Neurology (B.S., B.H., A.M., P.L., P.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Pathology and Molecular Medicine (L.K., J.Z.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Biology and Medical Genetics (M.V., M.B., P.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Faculty of Electrical Engineering (P.J.), Department of Circuit Theory, Czech Technical University in Prague; Department of Neurosurgery (M.T.), Second Faculty of Medicine, Charles University and Motol University Hospital; Department of Radiology (M.K.), Second Faculty of Medicine, Charles University and Motol University Hospital; and Department of Neurology (P.M.), Second Faculty of Medicine, Charles University and Motol University Hospital, Czech Republic.ORCID https://orcid.org/0000-0002-3071-1589
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background and Objectives: Malformations of cortical development (MCD), though individually rare, constitute a significant burden of disease. The diagnostic yield of next-generation sequencing (NGS) in these patients varies across studies and methods, and novel genes and variants continue to emerge. Methods: Patients (n = 123) with a definite radiologic or histopathologic diagnosis of MCD, with or without epilepsy were included in this study. They underwent NGS-based targeted gene panel (TGP) testing, whole-exome sequencing (WES), or WES-based virtual panel testing. Selected patients who underwent epilepsy surgery (n = 69) also had somatic gene testing of brain tissue-derived DNA. We analyzed predictors of positive germline genetic finding and diagnostic yield of respective methods. Results: Pathogenic or likely pathogenic germline genetic variants were detected in 21% of patients (26/123). In the surgical subgroup (69/123), we performed somatic sequencing in 40% of cases (28/69) and detected causal variants in 18% (5/28). Diagnostic yield did not differ between TGP, WES-based virtual gene panel, and open WES ( Discussion: In this study, we are reporting genetic findings of a large cohort of MCD patients with epilepsy or potentially epileptogenic MCD. We determine predictors of successful ascertainment of a genetic diagnosis in real-life setting and report novel, likely pathogenic variants in MCD and non-MCD genes alike.
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