Associated Papers
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
40347095 (PubMed )
Supplement: EPI4-10-1065-s001.xlsx › Targeted_NGS
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
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.
Bartolini E et al.
Neuropediatrics, 2023
Seizure features and outcomes in 50 children with GATOR1 variants: A retrospective study, more favorable for epilepsy surgery.
Wang H et al.
Epilepsia Open, 2023
37259768 (PubMed )
Supplement: EPI4-8-969-s002.pdf
Dysregulated Amino Acid Sensing Drives Colorectal Cancer Growth and Metabolic Reprogramming Leading to Chemoresistance.
Solanki S et al.
Gastroenterology, 2023
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A et al.
Annals of Neurology, 2022
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Balestrini S et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 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
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
DEPDC5 mutations in genetic focal epilepsies of childhood.
Lal D et al.
Annals of Neurology, 2014
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