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
Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
Okubo Y et al.
Brain & Development, 2023
Biophysical characterization and modelling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity.
Berecki G et al.
Neurobiology of Disease, 2023
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
Brunklaus A et al.
Brain : a Journal of Neurology, 2022
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