An electrophysiological characterizaton of Kv7.2 and Nav1.1 channel mutations in genetic epilepsy

Autor:	Volkers, L.
Přispěvatelé:	Lindhout, D., Koeleman, BPC, Rook, MB, University Utrecht
Jazyk:	angličtina
Rok vydání:	2012
Předmět:	KCNQ2 GEFS+ Econometric and Statistical Methods: General Epilepsy potassium Medical sciences General [Econometric and Statistical Methods] Dravet syndrome BFNE ion channel Bescherming en bevordering van de menselijke gezondheid SCN1A Geneeskunde(GENK) sodium
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3c673c527d5e5792eebe6005cedd244b https://dspace.library.uu.nl/handle/1874/257319 Zobrazit plný text záznamu