All

What are you looking for?

All
Projects
Results
Organizations

Quick search

  • Projects supported by TA ČR
  • Excellent projects
  • Projects with the highest public support
  • Current projects

Smart search

  • That is how I find a specific +word
  • That is how I leave the -word out of the results
  • “That is how I can find the whole phrase”

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

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    10608 - Biochemistry and molecular biology

Result continuities

  • Project

  • 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