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
Improvement of variant reclassification in genetic neurodevelopmental conditions.
Kowanda M et al.
Genetics in Medicine Open, 2024
39669614 (PubMed )
Supplement: mmc2.xlsx › Classification_criteria_applied
SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and Prognosis.
Zeng Q et al.
Frontiers in Molecular Neuroscience, 2022
Rapid whole-exome sequencing facilitates precision medicine in paediatric rare disease patients and reduces healthcare costs.
Chung CCY et al.
The Lancet Regional Health. Western Pacific, 2020
Electrophysiological features: The next precise step for SCN2A developmental epileptic encephalopathy.
Miao P et al.
Molecular Genetics & Genomic Medicine, 2020
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