ArticleEpilepsia2019
A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes.
Article in Epilepsia, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 29 citations in OpenAlex.
- Gene variants in periventricular nodular heterotopia.Acta epileptologica · 2026Review
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Transcriptomic Profiles from Stereo-EEGs May Reflect the Local Brain Cell Microenvironment in Human Epilepsy.Biomolecules · 2025Article
- No association between histopathology and neurophysiology in surgical specimens from pediatric focal epilepsy patients.Epilepsia · 2025Article
- Detecting somatic variants in purified brain DNA obtained from surgically implanted depth electrodes in epilepsy.Epilepsia · 2025Article
- Stereoelectroencephalographic thermocoagulation in FLNA-positive heterotopia: Is it an effective treatment?Epilepsia · 2025Article
- High-resolution multimodal profiling of human epileptic brain activity via explanted depth electrodes.JCI insight · 2025Article
- Advancing precision diagnostics: minimally invasive approaches for understanding the role of brain-limited somatic mutations in pediatric drug-resistant epilepsy.Frontiers in surgery · 2025Review
- Article
- Genetic Insights Into Hypothalamic Hamartoma: Unraveling Somatic Variants.Neurology. Genetics · 2024Article
- Characterization of low-grade epilepsy-associated tumor from implanted stereoelectroencephalography electrodes.Epilepsia open · 2024Article
- Somatic Mosaicism inNeurology. Genetics · 2024Article
- Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.Brain communications · 2023Article
- The clinical and imaging features of FLNA positive and negative periventricular nodular heterotopia.Biomedical journal · 2022Article
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- X-linked serotonin 2C receptor is associated with a non-canonical pathway for sudden unexpected death in epilepsy.Brain communications · 2021Article
- A somatic mutation in MEN1 gene detected in periventricular nodular heterotopia tissue obtained from depth electrodes.Epilepsia · 2019Article
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Periventricular nodular heterotopia (PNH) is a common structural malformation of cortical development. Mutations in the filamin A gene are frequent in familial cases with X-linked PNH. However, many cases with sporadic PNH remain genetically unexplained. Although medically refractory epilepsy often brings attention to the underlying PNH, patients are often not candidates for surgical resection. This limits access to neuronal tissue harboring causal mutations. We evaluated a patient with PNH and medically refractory focal epilepsy who underwent a presurgical evaluation with stereotactically placed electroencephalographic (SEEG) depth electrodes. Following SEEG explantation, we collected trace tissue adherent to the electrodes and extracted the DNA. Whole-exome sequencing performed in a Clinical Laboratory Improvement Amendments-approved genetic diagnostic laboratory uncovered a de novo heterozygous pathogenic variant in novel candidate PNH gene MEN1 (multiple endocrine neoplasia type 1; c.1546dupC, p.R516PfsX15). The variant was absent in an earlier exome profiling of the venous blood-derived DNA. The MEN1 gene encodes the ubiquitously expressed, nuclear scaffold protein menin, a known tumor suppressor gene with an established role in the regulation of transcription, proliferation, differentiation, and genomic integrity. Our study contributes a novel candidate gene in PNH generation and a novel practical approach that integrates electrophysiological and genetic explorations of epilepsy.
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