One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. [electronic resource]
Producer: 20110802Description: 180-3 p. digitalISSN:- 1872-7972
- Age of Onset
- Anticonvulsants -- therapeutic use
- Child
- Child, Preschool
- Electroencephalography
- Epilepsies, Myoclonic -- drug therapy
- Female
- Frameshift Mutation
- Humans
- Infant
- Male
- Mutation, Missense
- NAV1.1 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins -- genetics
- Phenotype
- Sodium Channels -- genetics
No physical items for this record
Publication Type: Case Reports; Journal Article
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