De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61388963%3A_____%2F21%3A00545025" target="_blank" >RIV/61388963:_____/21:00545025 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11120/21:43921908 RIV/00216208:11110/21:10430282
Result on the web
<a href="https://doi.org/10.1186/s13041-021-00838-y" target="_blank" >https://doi.org/10.1186/s13041-021-00838-y</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1186/s13041-021-00838-y" target="_blank" >10.1186/s13041-021-00838-y</a>
Alternative languages
Result language
angličtina
Original language name
De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy
Original language description
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.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Molecular Brain
ISSN
1756-6606
e-ISSN
1756-6606
Volume of the periodical
14
Issue of the periodical within the volume
1
Country of publishing house
GB - UNITED KINGDOM
Number of pages
5
Pages from-to
126
UT code for WoS article
000686625300002
EID of the result in the Scopus database
2-s2.0-85112727757