Objective Increasing availability of surgically resected brain tissue from patients with focal epilepsy and focal cortical dysplasia or low-grade glioneuronal tumors has fostered large-scale genetic examination. However, assessment of pathogenicity of germ line and somatic variants remains difficult. Here, we present a state-of-the-art evaluation of reported genes and variants associated with epileptic brain lesions. Methods Results We critically reevaluated the pathogenicity for all neuropathology-associated variants reported to date in the PubMed and ClinVar databases, including 101 neuropathology-associated missense variants encompassing 11 disease-related genes. We assessed gene variant tolerance and classified all identified missense v...
Malformations of cortical development (MCD) comprise a broad spectrum of developmental brain abnorma...
Understanding the aetiology of epilepsy is essential both for clinical management of patients and fo...
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indicatio...
Objective Increasing availability of surgically resected brain tissue from patients with focal epile...
peer reviewedObjective: Increasing availability of surgically resected brain tissue from patients ...
peer reviewedGermline and brain-specific somatic variants have been reported as an underlying cause ...
Purpose: Increasing availability of surgically resected brain tissue from Focal Cortical Dysplasia a...
It is challenging to estimate genetic variant burden across different subtypes of epilepsy. Herein, ...
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases wher...
Lopez-Rivera JA, Leu C, Macnee M, et al. The genomic landscape across 474 surgically accessible epil...
In the last few years, with the advent of next generation sequencing (NGS), our knowledge of genes a...
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for...
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for...
Objective: Focal epilepsy is the most common subtype of epilepsies in which the influence of underly...
OBJECTIVE: Copy number variations (CNVs) represent a significant genetic risk for several neurodevel...
Malformations of cortical development (MCD) comprise a broad spectrum of developmental brain abnorma...
Understanding the aetiology of epilepsy is essential both for clinical management of patients and fo...
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indicatio...
Objective Increasing availability of surgically resected brain tissue from patients with focal epile...
peer reviewedObjective: Increasing availability of surgically resected brain tissue from patients ...
peer reviewedGermline and brain-specific somatic variants have been reported as an underlying cause ...
Purpose: Increasing availability of surgically resected brain tissue from Focal Cortical Dysplasia a...
It is challenging to estimate genetic variant burden across different subtypes of epilepsy. Herein, ...
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases wher...
Lopez-Rivera JA, Leu C, Macnee M, et al. The genomic landscape across 474 surgically accessible epil...
In the last few years, with the advent of next generation sequencing (NGS), our knowledge of genes a...
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for...
Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for...
Objective: Focal epilepsy is the most common subtype of epilepsies in which the influence of underly...
OBJECTIVE: Copy number variations (CNVs) represent a significant genetic risk for several neurodevel...
Malformations of cortical development (MCD) comprise a broad spectrum of developmental brain abnorma...
Understanding the aetiology of epilepsy is essential both for clinical management of patients and fo...
The field of epilepsy genetics is advancing rapidly and epilepsy is emerging as a frequent indicatio...