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Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2
dc.contributor.authorHill, Sophie F.
dc.contributor.authorZiobro, Julie M.
dc.contributor.authorJafar-Nejad, Paymaan
dc.contributor.authorRigo, Frank
dc.contributor.authorMeisler, Miriam H.
dc.date.accessioned2022-11-09T21:18:12Z
dc.date.available2023-11-09 16:18:11en
dc.date.available2022-11-09T21:18:12Z
dc.date.issued2022-10
dc.identifier.citationHill, Sophie F.; Ziobro, Julie M.; Jafar-Nejad, Paymaan ; Rigo, Frank; Meisler, Miriam H. (2022). "Genetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2." Epilepsia (10): e125-e131.
dc.identifier.issn0013-9580
dc.identifier.issn1528-1167
dc.identifier.urihttps://hdl.handle.net/2027.42/175091
dc.description.abstractVoltage-gated sodium and potassium channels regulate the initiation and termination of neuronal action potentials. Gain-of-function mutations of sodium channel Scn8a and loss-of-function mutations of potassium channels Kcna1 and Kcnq2 increase neuronal activity and lead to seizure disorders. We tested the hypothesis that reducing the expression of Scn8a would compensate for loss-of-function mutations of Kcna1 or Kcnq2. Scn8a expression was reduced by the administration of an antisense oligonucleotide (ASO). This treatment lengthened the survival of the Kcn1a and Kcnq2 mutants, and reduced the seizure frequency in the Kcnq2 mutant mice. These observations suggest that reduction of SCN8A may be therapeutic for genetic epilepsies resulting from mutations in these potassium channel genes.
dc.publisherUniversity of Washington
dc.publisherWiley Periodicals, Inc.
dc.subject.otherepilepsy
dc.subject.otherASO
dc.subject.otherpotassium channel
dc.subject.othersodium channel
dc.subject.othertherapy
dc.titleGenetic interaction between Scn8a and potassium channel genes Kcna1 and Kcnq2
dc.typeArticle
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelMedicine (General)
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/175091/1/epi17374.pdf
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/175091/2/epi17374_am.pdf
dc.identifier.doi10.1111/epi.17374
dc.identifier.sourceEpilepsia
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dc.working.doiNOen
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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