Article

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasia

2025-11-22

Abstract excerpt

<h4>ABSTRACT</h4> Focal cortical dysplasias (FCDs) are malformations of cortical development associated with drug-resistant focal epilepsy. We analysed surgical tissue from 28 consecutive cases recruited from adult and pediatric epilepsy surgery programs. We performed high-depth sequencing of lesional tissue, validated somatic variants using droplet digital PCR, and investigated genotype-phenotype correlations. A...

Topics

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

Identifiers and source

Literature Corpus work: 04ac3adc-b920-58f6-8a1d-5dae9a47cc46
DOI: 10.1101/2025.11.17.25340194

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Deep tissue sequencing improves genetic diagnostic yield in focal cortical dysplasiaDOI 10.1101/2025.11.17.25340194Read

Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic care.Semantic proximity Read

Analysis of common PI3K-AKT-MTOR mutations in pediatric surgical epilepsy by droplet digital PCR reveals novel clinical and molecular insightsSemantic proximity Read

Dissecting the genetic basis of focal cortical dysplasia: a large cohort studySemantic 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 mutation involving diverse genes leads to a spectrum of focal cortical malformationsSemantic proximity Read

Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.Semantic proximity Read

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

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific ExpressionSemantic proximity Read

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencingSemantic proximity Read

Toward a refined genotype-phenotype classification scheme for the international consensus classification of Focal Cortical Dysplasia.Semantic proximity Read

Identification of genetic characteristics in pediatric epilepsy with focal cortical dysplasia type 2 using deep whole-exome sequencing.Semantic proximity Read