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

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...

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Autores principales: Souza, Ivana A., Gandini, Maria A., Zhang, Fang-Xiong, Mitchell, Wendy G., Matsumoto, Joyce, Lerner, Jason, Pierson, Tyler Mark, Zamponi, Gerald W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Short Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814130/
https://www.ncbi.nlm.nih.gov/pubmed/31651342
http://dx.doi.org/10.1186/s13041-019-0509-5
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author Souza, Ivana A.
Gandini, Maria A.
Zhang, Fang-Xiong
Mitchell, Wendy G.
Matsumoto, Joyce
Lerner, Jason
Pierson, Tyler Mark
Zamponi, Gerald W.
author_facet Souza, Ivana A.
Gandini, Maria A.
Zhang, Fang-Xiong
Mitchell, Wendy G.
Matsumoto, Joyce
Lerner, Jason
Pierson, Tyler Mark
Zamponi, Gerald W.
author_sort Souza, Ivana A.
collection PubMed
description 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.
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spelling pubmed-68141302019-10-31 Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy Souza, Ivana A. Gandini, Maria A. Zhang, Fang-Xiong Mitchell, Wendy G. Matsumoto, Joyce Lerner, Jason Pierson, Tyler Mark Zamponi, Gerald W. Mol Brain Short Report 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. BioMed Central 2019-10-24 /pmc/articles/PMC6814130/ /pubmed/31651342 http://dx.doi.org/10.1186/s13041-019-0509-5 Text en © The Author(s). 2019 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Short Report
Souza, Ivana A.
Gandini, Maria A.
Zhang, Fang-Xiong
Mitchell, Wendy G.
Matsumoto, Joyce
Lerner, Jason
Pierson, Tyler Mark
Zamponi, Gerald W.
Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
title Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
title_full Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
title_fullStr Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
title_full_unstemmed Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
title_short Pathogenic Cav3.2 channel mutation in a child with primary generalized epilepsy
title_sort pathogenic cav3.2 channel mutation in a child with primary generalized epilepsy
topic Short Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6814130/
https://www.ncbi.nlm.nih.gov/pubmed/31651342
http://dx.doi.org/10.1186/s13041-019-0509-5
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