Associated Papers
Distinctive genetic architecture of infantile epileptic spasms syndrome compared to self-limited infantile epilepsy by trios whole-exome sequencing.
Sun Y et al.
Epilepsia Open, 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
Diagnostic utility of exome sequencing followed by research reanalysis in human brain malformations.
Kooshavar D et al.
Brain Communications, 2024
Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update.
Yang Y et al.
Frontiers in Neurology, 2024
Clinical and genetic features of GATOR1 complex-associated epilepsy.
Yin K et al.
Journal of Medical Genetics, 2023
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study.
Duan J et al.
Brain : a Journal of Neurology, 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
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A et al.
Annals 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
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies.
Pippucci T et al.
Annals of Clinical and Translational Neurology, 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
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
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG et al.
Annals of Neurology, 2016
Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.
Baulac S et al.
Annals of Neurology, 2015