Article
De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy.
Nature genetics - 1 Nov 2012
Barcia Giulia, Fleming Matthew R, Deligniere Aline, Gazula Valeswara-Rao, Brown Maile R, Langouet Maeva, Chen Haijun, Kronengold Jack, Abhyankar Avinash, Cilio Roberta, Nitschke Patrick, Kaminska Anna, Boddaert Nathalie, Casanova Jean-Laurent, Desguerre Isabelle, Munnich Arnold, Dulac Olivier, Kaczmarek Leonard K, Colleaux Laurence, Nabbout Rima
Abstract excerpt
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...
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