Associated Papers
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
39926610 (PubMed )
Supplement: fcaf034_supplementary_data.pdf
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
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
36315135 (PubMed )
Supplement: jamaneurol-e223651-s001.pdf
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo GH et al.
Molecular Medicine (cambridge, Mass.), 2022
35346031 (PubMed )
Supplement: 10020_2022_464_MOESM3_ESM.xlsx › Supplementary_Table_2
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
Phenotypic and Genetic Complexity in Pediatric Movement Disorders.
Kim MJ et al.
Frontiers in Genetics, 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
Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
Lee WS 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
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
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
Ricos MG et al.
Annals of Neurology, 2016
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