Associated Papers
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
Detection of brain somatic mutations from stereo-EEG electrodes in focal epilepsy: Current advances and future perspectives.
Checri R et al.
Revue Neurologique, 2025
ILAE genetic literacy series: Focal cortical dysplasia.
Macdonald-Laurs E et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.
Coleman M et al.
Brain Communications, 2025
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Chen S et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Ectopic HCN4 Provides a Target Biomarker for the Genetic Spectrum of mTORopathies.
Coleman M et al.
Neurology. Genetics, 2024
Usage of Genetic Panels in an Adult Epilepsy Clinic.
Li J et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2023
Detection of brain somatic mutations in focal cortical dysplasia during epilepsy presurgical workup.
Checri R et al.
Brain Communications, 2023
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review.
Zhang X et al.
Frontiers in Neurology, 2021
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
Bagnall RD et al.
Annals of Neurology, 2016
A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.
Martin C et al.
Clinical Genetics, 2014
Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
Dibbens LM et al.
Nature Genetics, 2013