Ontology highlight
ABSTRACT:
SUBMITTER: Barcia G
PROVIDER: S-EPMC3687547 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Nature genetics 20121021 11
Malignant migrating partial seizures of infancy (MMPSI) is a rare epileptic encephalopathy of infancy that combines pharmacoresistant seizures with developmental delay. We performed exome sequencing in three probands with MMPSI and identified de novo gain-of-function mutations affecting the C-terminal domain of the KCNT1 potassium channel. We sequenced KCNT1 in 9 additional individuals with MMPSI and identified mutations in 4 of them, in total identifying mutations in 6 out of 12 unrelated affec ...[more]