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Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy

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dc.contributor.authorSimons, Cas
dc.contributor.authorRash, Lachlan D.
dc.contributor.authorCrawford, Joanna
dc.contributor.authorMa, Linlin
dc.contributor.authorCristofori-Armstrong, Ben
dc.contributor.authorMiller, David
dc.contributor.authorRu, Kelin
dc.contributor.authorBaillie, Gregory J.
dc.contributor.authorAlanay, Yasemin
dc.contributor.authorJacquinet, Adeline
dc.contributor.authorDebray, Francois-Guillaume
dc.contributor.authorVerloes, Alain
dc.contributor.authorShen, Joseph
dc.contributor.authorGuler, Serhat
dc.contributor.authorYuksel, Adnan
dc.contributor.authorCleary, John G.
dc.contributor.authorGrimmond, Sean M.
dc.contributor.authorMcGaughran, Julie
dc.contributor.authorKing, Glenn F.
dc.contributor.authorGabbett, Michael T.
dc.contributor.authorTaft, Ryan J.
dc.contributor.institutionauthorYEŞİL, GÖZDE
dc.date.accessioned2019-10-05T21:24:41Z
dc.date.available2019-10-05T21:24:41Z
dc.date.issued2015-01-01
dc.description.abstractTemple-Baraitser syndrome (TBS) is a multisystem developmental disorder characterized by intellectual disability, epilepsy, and hypoplasia or aplasia of the nails of the thumb and great toe(1,2). Here we report damaging de novo mutations in KCNH1 (encoding a protein called ether a go-go, EAG1 or K(V)10.1), a voltage-gated potassium channel that is predominantly expressed in the central nervous system (CNS), in six individuals with TBS. Characterization of the mutant channels in both Xenopus laevis oocytes and human HEK293T cells showed a decreased threshold of activation and delayed deactivation, demonstrating that TBS-associated KCNH1 mutations lead to deleterious gain of function. Consistent with this result, we find that two mothers of children with TBS, who have epilepsy but are otherwise healthy, are low-level (10% and 27%) mosaic carriers of pathogenic KCNH1 mutations. Consistent with recent reports(3-8), this finding demonstrates that the etiology of many unresolved CNS disorders, including epilepsies, might be explained by pathogenic mosaic mutations.
dc.identifier10.5137/1019-5149.jtn.16136-15.1
dc.identifier.citationSimons C., Rash L. D. , Crawford J., Ma L., Cristofori-Armstrong B., Miller D., Ru K., Baillie G. J. , Alanay Y., Jacquinet A., et al., -Mutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy-, NATURE GENETICS, cilt.47, ss.73-0, 2015
dc.identifier.pubmed25420144
dc.identifier.urihttps://hdl.handle.net/20.500.12645/7234
dc.language.isoen
dc.titleMutations in the voltage-gated potassium channel gene KCNH1 cause Temple-Baraitser syndrome and epilepsy
dc.typeArticle
dspace.entity.typePublication
local.article.journalnameTURKISH NEUROSURGERY
local.avesis.idb43a3a6d-ccb0-4d93-935e-fc42b3a7f9c7
local.avesis.response7110
local.publication.goal03 - Sağlık ve Kaliteli Yaşam
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relation.isAuthorOfPublication.latestForDiscoveryb653abbc-327a-4b3b-a227-f3344d8d6b70
relation.isGoalOfPublication9c198c48-b603-4e2f-8366-04edcfc1224c
relation.isGoalOfPublication.latestForDiscovery9c198c48-b603-4e2f-8366-04edcfc1224c
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