An electrophysiological characterizaton of Kv7.2 and Nav1.1 channel mutations in genetic epilepsy
Publication date
2012-11-27
Authors
Volkers, L.
Editors
Advisors
Supervisors
Lindhout, D.
Koeleman, Bobby P C
Rook, MB
DOI
Document Type
Dissertation
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Abstract
Most genetically determined epilepsies are caused by gene mutations in genes that encode for ion channels and receptors. Functional analysis of these protein mutants shows changes in voltage dependency and/or kinetics or a complete loss of channel function via different mechanisms. Nevertheless, the severity of the epileptic seizures is not only determined by a specific gene mutation, but genetic background, modifying genes and genetic compensatory factors are playing a crucial role in the phenotypic outcome of patients.
Keywords
Econometric and Statistical Methods: General, Geneeskunde(GENK), Medical sciences, Bescherming en bevordering van de menselijke gezondheid, Epilepsy, ion channel, KCNQ2, SCN1A, BFNE, Dravet syndrome, GEFS+, potassium, sodium
Citation
Volkers, L 2012, 'An electrophysiological characterizaton of Kv7.2 and Nav1.1 channel mutations in genetic epilepsy', Doctor of Philosophy, Utrecht University.