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
Decoding SCN2A Variants: Bridging Genetics and Phenotypes in Autism Spectrum Disorder.
DiStefano N et al.
Journal of Clinical Medicine, 2025
Neurodevelopmental outcomes in a cohort of Australian families with self-limited familial epilepsy of neonatal/infantile onset.
Innes EA et al.
Seizure, 2024
Further delineation of phenotypic spectrum of SCN2A-related disorder.
Richardson R et al.
American Journal of Medical Genetics. Part A, 2022
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q et al.
Frontiers in Molecular Neuroscience, 2022
Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders.
Crawford K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Epilepsy-Related Voltage-Gated Sodium Channelopathies: A Review.
Menezes LFS et al.
Frontiers in Pharmacology, 2020
Molecular basis for pore blockade of human Na+ channel Nav1.2 by the μ-conotoxin KIIIA.
Pan X et al.
Science (new York, N.y.), 2019
The finding of a new heterozygous mutation site of the SCN2A gene in a monozygotic twin family carrying and exhibiting genetic epilepsy with febrile seizures plus (GEFS+) using targeted next-generation sequencing.
Liu XW et al.
Clinical Neurology and Neurosurgery, 2018
[Spectrum of mutations in benign familial neonatal-infantile epilepsy].
Zeng Q et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2018
[Gene mutations in unexplained infantile epileptic encephalopathy: an analysis of 47 cases].
Wei CM et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2018
Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort.
Zeng Q et al.
Journal of Human Genetics, 2018
Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.
Traynelis J et al.
Genome Research, 2017
ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.
Bennett CA et al.
Neurology. Genetics, 2017
Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities.
Baasch AL et al.
Epilepsia, 2014
Genes associated with idiopathic epilepsies: a current overview.
Lu Y et al.
Neurological Research, 2009
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Berkovic SF et al.
Annals of Neurology, 2004