Associated Papers
Epilepsy-Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties.
Liebovitz LN et al.
Annals of Clinical and Translational Neurology, 2026
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 2026
Epilepsy-associated Variants of a Single SCN1A Codon exhibit Divergent Functional Properties.
Liebovitz LN et al.
Biorxiv : the Preprint Server for Biology, 2025
Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.
de Kovel CG et al.
Molecular Genetics & Genomic Medicine, 2016
MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.
Kerr M et al.
Molecular Genetics and Metabolism, 0
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