Associated Papers
Surgical decision-making in adult patients with epilepsy related to germline mutations: A single-center study.
Podkorytova I et al.
The Journal of International Medical Research, 2025
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
Targeting pathological cells with senolytic drugs reduces seizures in neurodevelopmental mTOR-related epilepsy.
Ribierre T et al.
Nature Neuroscience, 2024
An integrated genetic analysis of epileptogenic brain malformed lesions.
Fujita A et al.
Acta Neuropathologica Communications, 2023
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
mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.
Garcia CAB et al.
Epilepsia Open, 2020
Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.
Baldassari S et al.
Acta Neuropathologica, 2019
[A second-hit somatic mutation drives neurodevelopmental epilepsy].
Ribierre T et al.
Medecine Sciences : M/s, 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
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.
Ribierre T et al.
The Journal of Clinical Investigation, 2018
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
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