关键词: de novo SCN2A mutation dynamic action potential clamp epilepsy modeling voltage clamp
Mesh : Action Potentials / genetics Adolescent Adult Brain Diseases / genetics Child Child, Preschool Epilepsy / genetics Female Genetic Association Studies / methods Genetic Variation / genetics Genotype Humans Infant Infant, Newborn Male NAV1.2 Voltage-Gated Sodium Channel / genetics Phenotype Seizures / genetics Spasms, Infantile / genetics Young Adult
来 源:
DOI:10.1073/pnas.1800077115
PDF(Pubmed)