Article

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional Epilepsy

2024-12-17

Abstract excerpt

Epilepsy affects 50 million people worldwide and is drug-resistant in approximately one third of cases. Even when a structural lesion is identified as the epileptogenic focus, understanding the underlying genetic causes is crucial to guide both counseling and treatment decisions. Both somatic and germline DNA variants may contribute to the lesion itself and/or influence the severity of symptoms. We therefore used...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 9dff0a24-69b1-5a2c-93ad-aa0ac21978c1
DOI: 10.20944/preprints202412.1419.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Somatic DNA Variants in Epilepsy Surgery Brain Samples from Patients with Lesional EpilepsyDOI 10.20944/preprints202412.1419.v1Read

Somatic variants as a cause of drug-resistant epilepsy including mesial temporal lobe epilepsy with hippocampal sclerosis.Semantic proximity Read

The genomic landscape across 474 surgically accessible epileptogenic human brain lesionsSemantic proximity Read

Detection of brain somatic variation in epilepsy-associated developmental lesionsSemantic proximity Read

Detection of brain somatic variation in epilepsy-associated developmental lesions.Semantic proximity Read

Somatic variant analysis of resected brain tissue in epilepsy surgery patients.Semantic proximity Read

Exome sequencing identifies additional pathogenic variants in neurodevelopmental genes in 3.6% of individuals with tuberous sclerosis complex.Semantic proximity Read

Germline genetic variants and epilepsy surgery response: individual-participant pooled analysis of 269 patientsSemantic proximity Read

Technological and computational approaches to detect somatic mosaicism in epilepsy.Semantic proximity Read

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaSemantic proximity Read

Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.Semantic proximity Read

From next-generation sequencing to targeted treatment of non-acquired epilepsiesSemantic proximity Read

Genetic Etiology of Epilepsy: A Retrospective Study From a Single-Center Cohort.Semantic proximity Read