Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy

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dc.contributor.authorSouza, Ivana A
dc.contributor.authorGandini, Maria A
dc.contributor.authorZhang, Fang-Xiong
dc.contributor.authorMitchell, Wendy G
dc.contributor.authorMatsumoto, Joyce
dc.contributor.authorLerner, Jason
dc.contributor.authorPierson, Tyler M
dc.contributor.authorZamponi, Gerald W
dc.date.accessioned2019-10-27T00:16:46Z
dc.date.available2019-10-27T00:16:46Z
dc.date.issued2019-10-24
dc.date.updated2019-10-27T00:16:46Z
dc.description.abstractAbstract Two paternally-inherited missense variants in CACNA1H were identified and characterized in a 6-year-old child with generalized epilepsy. Febrile and unprovoked seizures were present in this child. Both variants were expressed in cis or isolation using human recombinant Cav3.2 calcium channels in tsA-201 cells. Whole-cell patch-clamp recordings indicated that one variant (c.3844C > T; p.R1282W) caused a significant increase in current density consistent with a pathogenic gain-of-function phenotype; while the other cis-related variant (c.5294C > T; p.A1765V) had a benign profile.
dc.identifier.citationMolecular Brain. 2019 Oct 24;12(1):86
dc.identifier.doihttps://doi.org/10.1186/s13041-019-0509-5
dc.identifier.urihttp://hdl.handle.net/1880/111179
dc.language.rfc3066en
dc.rights.holderThe Author(s).
dc.titlePathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
dc.typeJournal Article
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