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- W3048331540 endingPage "197" @default.
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- W3048331540 abstract "Abstract This chapter describes recent advances in understanding the clinical significance of rare variants in potassium channel genes in the causation of epilepsy. The α subunits of potassium channels fall into three major families, which are encoded by at least 70 different genes, of which at least 40 are brain-expressed. Brain-expressed potassium channels, in both nerve and glial cells, have complex roles in the regulation of neurodevelopment and cortical excitability. The chapter discusses the 20 potassium channel α-subunit genes in which rare variants have been linked to a wide variety of neurocognitive phenotypes. Advances in the understanding of how gene variants affect channel function to result in neuronal dysfunction and epilepsy are discussed, as well as descriptions of the phenotypic characteristics of the disorder and how a genetic diagnosis currently impacts clinical management. The rapid discovery of potassium channelopathies causal of epilepsy needs to be matched by improved understanding of the impact of individual variants within the human brain in order to develop truly targeted therapies that will result in seizure control and potentially improved neurodevelopmental outcome." @default.
- W3048331540 created "2020-08-13" @default.
- W3048331540 creator A5062153529 @default.
- W3048331540 date "2020-08-06" @default.
- W3048331540 modified "2023-09-23" @default.
- W3048331540 title "Potassium Channel Mutations in Epilepsy" @default.
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