| http://purl.uniprot.org/citations/23086397 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23086397 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/23086397 | http://www.w3.org/2000/01/rdf-schema#comment | "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 affected individuals. Functional studies showed that the mutations led to constitutive activation of the channel, mimicking the effects of phosphorylation of the C-terminal domain by protein kinase C. In addition to regulating ion flux, KCNT1 has a non-conducting function, as its C terminus interacts with cytoplasmic proteins involved in developmental signaling pathways. These results provide a focus for future diagnostic approaches and research for this devastating condition."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2441"xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.org/dc/terms/identifier | "doi:10.1038/ng.2441"xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Chen H."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Chen H."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Munnich A."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Colleaux L."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Colleaux L."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Brown M.R."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Brown M.R."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Casanova J.L."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Boddaert N."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Boddaert N."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Desguerre I."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Desguerre I."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Kaminska A."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Kaminska A."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Nitschke P."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Barcia G."xsd:string |
| http://purl.uniprot.org/citations/23086397 | http://purl.uniprot.org/core/author | "Barcia G."xsd:string |