Associated Papers
Peri-ictal respiratory dysfunction: Expanding the association between mTOR pathway disorders and ictal central apnea.
Burani M et al.
Epilepsia, 2025
Ictal and Postictal Central Apnea in DEPDC5-Related Epilepsy.
Meletti S et al.
Neurology. Genetics, 2024
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
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
Prospect of genetic disorders in Saudi Arabia.
Alqahtani AS et al.
Frontiers in Genetics, 2023
37799141 (PubMed )
Supplement: Table1.xlsx › Supplementary_table_1._
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations.
Lai D et al.
Brain : a Journal of Neurology, 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
The landscape of epilepsy-related GATOR1 variants.
Baldassari S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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
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