One novel Dravet syndrome causing mutation and one recurrent MAE causing mutation in SCN1A gene. [electronic resource]
- Neuroscience letters Apr 2011
- 180-3 p. digital
Publication Type: Case Reports; Journal Article
1872-7972
10.1016/j.neulet.2011.03.008 doi
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