Počet záznamů: 1
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
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SYSNO ASEP 0545025 Druh ASEP J - Článek v odborném periodiku Zařazení RIV J - Článek v odborném periodiku Poddruh J Článek ve WOS Název De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy Tvůrce(i) Stringer, Robin Nicholas (UOCHB-X)
Jurkovicova-Tarabova, B. (SK)
Souza, I. A. (CA)
Ibrahim, J. (AE)
Vacík, T. (CZ)
Fathalla, W. M. (AE)
Hertecant, J. (AE)
Zamponi, G. W. (CA)
Lacinová, L. (SK)
Weiss, Norbert (UOCHB-X) ORCID, RIDČíslo článku 126 Zdroj.dok. Molecular Brain. - : BioMed Central
Roč. 14, č. 1 (2021)Poč.str. 5 s. Jazyk dok. eng - angličtina Země vyd. GB - Velká Británie Klíč. slova ion channels ; channelopathy ; calcium channel ; CACNA1H ; Ca(v)32 channel ; sodium channel ; SCN8A ; Na(v)1.6 channel ; epilepsy ; encephalopathy Obor OECD Biochemistry and molecular biology Způsob publikování Open access Institucionální podpora UOCHB-X - RVO:61388963 UT WOS 000686625300002 EID SCOPUS 85112727757 DOI 10.1186/s13041-021-00838-y Anotace Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies that are characterized by seizures and developmental delay. DEEs are primarily attributed to genetic causes and an increasing number of cases have been correlated with variants in ion channel genes. In this study, we report a child with an early severe DEE. Whole exome sequencing showed a de novo heterozygous variant (c.4873–4881 duplication) in the SCN8A gene and an inherited heterozygous variant (c.952G > A) in the CACNA1H gene encoding for Nav1.6 voltage-gated sodium and Cav3.2 voltage-gated calcium channels, respectively. In vitro functional analysis of human Nav1.6 and Cav3.2 channel variants revealed mild but significant alterations of their gating properties that were in general consistent with a gain- and loss-of-channel function, respectively. Although additional studies will be required to confirm the actual pathogenic involvement of SCN8A and CACNA1H, these findings add to the notion that rare ion channel variants may contribute to the etiology of DEEs. Pracoviště Ústav organické chemie a biochemie Kontakt asep@uochb.cas.cz ; Kateřina Šperková, Tel.: 232 002 584 ; Jana Procházková, Tel.: 220 183 418 Rok sběru 2022 Elektronická adresa https://doi.org/10.1186/s13041-021-00838-y
Počet záznamů: 1