Keyphrases
Epilepsy
100%
Functional Properties
100%
SCN2A
100%
Nav1.2
100%
Automated Patch Clamp
50%
Autism Spectrum Disorder
33%
Neurodevelopmental Disorders
33%
Patch-clamp Recording
33%
High-throughput
16%
Functional Consequences
16%
Large Cohort
16%
High-throughput Methods
16%
Disease-associated
16%
Loss Function
16%
Nav Channels
16%
Voltage Gating
16%
Sodium
16%
Intellectual Disability
16%
Splice Isoforms
16%
Gain-of-function mutation
16%
Risk Genes
16%
Common Variants
16%
HEK293 Cells
16%
Pathogenic Variants
16%
Disease Variants
16%
Complex Patterns
16%
Gain-of-function Variant
16%
Experimental Rig
16%
Neonatal Onset
16%
Binary Classification
16%
Recording Conditions
16%
Operator Bias
16%
Manual Patch Clamp
16%
Syndromic Intellectual Disability
16%
Biochemistry, Genetics and Molecular Biology
Automated Patch Clamp
100%
Nav1.2
100%
Mental Retardation
66%
Patch Clamp Technique
66%
Patch Clamp
33%
Isoform
33%
Electric Potential
33%
Neuroscience
Nav1.2
100%
Patch Clamp Technique
66%
Pervasive Developmental Disorder
66%
Patch Clamp
66%