Associated Papers
Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.
Sahu P et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies.
Barcia G et al.
Epilepsia Open, 2025
Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.
Kim GJ et al.
Endocrine Connections, 2025
DEPDC5 plays a vital role in epilepsy: Genotypic and phenotypic features in cohort and literature.
Gu C et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2024
Multidisciplinary molecular consultation increases the diagnosis of pediatric epileptic encephalopathy and neurodevelopmental disorders.
Zhang L et al.
Molecular Genetics & Genomic Medicine, 2023
Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.
Al Anazi AH et al.
Human Genomics, 2022
Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.
Lee WS et al.
International Journal of Molecular Sciences, 2022
DEPDC5 variant in focal cortical dysplasia: a case report and review of the literature.
Jesus-Ribeiro J et al.
Oxford Medical Case Reports, 2021
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review.
Zhang X et al.
Frontiers in Neurology, 2021
DEPDC5 Variants Associated Malformations of Cortical Development and Focal Epilepsy With Febrile Seizure Plus/Febrile Seizures: The Role of Molecular Sub-Regional Effect.
Liu L et al.
Frontiers in Neuroscience, 2020
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.
de Calbiac H et al.
Annals of Clinical and Translational Neurology, 2018
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
Marsan E et al.
Neuropathology and Applied Neurobiology, 2018
GATOR1 complex: the common genetic actor in focal epilepsies.
Baldassari S et al.
Journal of Medical Genetics, 2016
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Baulac S et al.
Annals of Neurology, 2015
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified.
Kaur A
Clinical Genetics, 2013
Mutations of DEPDC5 cause autosomal dominant focal epilepsies.
Ishida S et al.
Nature Genetics, 2013