Biological concepts in human sodium channel epilepsies and their relevance in clinical practice. [electronic resource]
Producer: 20201019Description: 387-399 p. digitalISSN:- 1528-1167
- Age of Onset
- Autism Spectrum Disorder -- genetics
- Child
- Child, Preschool
- Codon, Nonsense
- DNA Copy Number Variations
- Electroencephalography
- Epileptic Syndromes -- drug therapy
- Female
- Gain of Function Mutation
- Gene Deletion
- Gene Duplication
- Gene Expression
- Gene Expression Regulation, Developmental
- Genotype
- Humans
- Infant
- Infant, Newborn
- Loss of Function Mutation
- Male
- Mutation, Missense
- NAV1.1 Voltage-Gated Sodium Channel -- genetics
- NAV1.2 Voltage-Gated Sodium Channel -- genetics
- NAV1.3 Voltage-Gated Sodium Channel -- genetics
- NAV1.6 Voltage-Gated Sodium Channel -- genetics
- Neurodevelopmental Disorders -- genetics
- Phenotype
- Sodium Channel Blockers -- therapeutic use
- Sodium Channels -- genetics
No physical items for this record
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
There are no comments on this title.
Log in to your account to post a comment.