A missense mutation converts the Na+,K+-ATPase into an ion channel and causes therapy-resistant epilepsy
Sofia Ygberg, Evgeny E. Akkuratov, Rebecca J. Howard, Fulya Taylan, Daniel C. Jans, Dhani Ram Mahato, Adriana Katz, Paula Fernanda Kinoshita, Benjamin Portal, Inger Nennesmo, Maria Lindskog, Steven J.D. Karlish, Magnus Andersson, Anna Lindstrand, Hjalmar Brismar, Anita Aperia
Abstract
-ATPase should be considered a neuronal locus minoris resistentia in diseases associated with epilepsy and with loss of plasma membrane integrity.
Topics & Concepts
Missense mutationEpilepsyMutationReversionIon channelChemistryMedicineGeneticsBiologyNeurosciencePhenotypeGeneReceptorIon channel regulation and functionIon Transport and Channel Regulation