Keyphrases
Poison Exon
100%
Splicing Mechanism
100%
Dravet Syndrome
100%
SCN1A
100%
Exon
57%
Induced Pluripotent Stem Cells (iPSCs)
28%
Likely Pathogenic Variant
14%
Minigene Splicing Assay
14%
Mutated Genes
14%
Patients with Epilepsy
14%
Patient-specific
14%
Stem Cell Lines
14%
Coding Region
14%
Targeted Resequencing
14%
Physiological Properties
14%
Epilepsy
14%
Neuronal Cells
14%
Exome Sequencing
14%
Early-onset Epilepsy
14%
Splicing Factor
14%
Functional Properties
14%
Non-neuronal Cells
14%
Molecular Diagnostics
14%
Neuroscience
Dravet Syndrome
100%
Exon
100%
Sodium Channel Nav1.1
33%
Mutated Genes
16%
Coding Region
16%
Splicing Factor
16%
Cell Line
16%
Stem Cell
16%
Exome Sequencing
16%
Biochemistry, Genetics and Molecular Biology
Exon
100%
Induced Pluripotent Stem Cell
16%
Splicing Factor
16%
Exome Sequencing
16%
Mutated Genes
16%
Minigene
16%
Coding Region
16%
Stem Cell Line
16%