De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
2012
Rima Nabbout and colleagues report the identification of de novo mutations in the KCNT1 potassium channel gene in individuals with malignant migrating partial seizures of infancy, a rare epileptic encephalopathy with pharmacoresistant seizures and developmental delay. The authors show that the mutations have a gain-of-function effect on KCNT1 channel activity.
Keywords:
- Correction
- Source
- Cite
- Save
- Machine Reading By IdeaReader
53
References
344
Citations
NaN
KQI