Associated Papers
Functional Characterization of a De Novo SCN2A Mixed Variant Linked to Early Infantile Developmental and Epileptic Encephalopathy.
Corradi A et al.
Neurology. Genetics, 2026
Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy.
Berecki G et al.
Brain : a Journal of Neurology, 2025
Genotypic and phenotypic characteristics of sodium channel-associated epilepsy in Chinese population.
Dong R et al.
Journal of Human Genetics, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s001.xlsx › Feuil2
Scanning mutagenesis of the voltage-gated sodium channel NaV1.2 using base editing.
Pablo JLB et al.
Cell Reports, 2023
37267104 (PubMed )
Supplement: NIHMS1912772-supplement-2.xlsx › Sheet1
Genetic analysis using targeted exome sequencing of 53 Vietnamese children with developmental and epileptic encephalopathies.
Hieu NLT et al.
American Journal of Medical Genetics. Part A, 2022
Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.
Liu Y et al.
Frontiers in Genetics, 2021
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM5_ESM.xlsx › Supplementary_Data_2
Mutational heterogeneity in non-serous ovarian cancers.
Teer JK et al.
Scientific Reports, 2017
28852190 (PubMed )
Supplement: 41598_2017_10432_MOESM2_ESM.xlsx › Supp_Table_11
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