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Genetic heterogeneity in infantile spasms

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F19%3A10398556" target="_blank" >RIV/00064203:_____/19:10398556 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216208:11130/19:10398556

  • Result on the web

    <a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=DGdKNRQ179" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=DGdKNRQ179</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.eplepsyres.2019.106181" target="_blank" >10.1016/j.eplepsyres.2019.106181</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Genetic heterogeneity in infantile spasms

  • Original language description

    Infantile spasms (IS) is a developmental and epileptic encephalopathy with heterogeneous etiologies including many genetic causes. Genetic studies have identified pathogenic variants in over 30 genes as causes of IS. Many of these genetic causes are extremely rare, with only one reported incidence in an individual with IS. To better understand the genetic landscape of IS, we used targeted sequencing to screen 42 candidate IS genes and 53 established developmental and epileptic encephalopathy genes in 92 individual with IS. We identified a genetic diagnosis for 7.6% of our cohort, including pathogenic variants in KCNB1 (n = 2), GNA01 (n = 1), STXBP1 (n = 1), SLC35A2 (n = 1), TBLIXR1 (n = 1), and K1F1A (n = 1). Our data emphasize the genetic heterogeneity of IS and will inform the diagnosis and management of individuals with this devastating disorder.

  • 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

    30103 - Neurosciences (including psychophysiology)

Result continuities

  • Project

  • Continuities

    I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2019

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Epilepsy Research

  • ISSN

    0920-1211

  • e-ISSN

  • Volume of the periodical

    156

  • Issue of the periodical within the volume

    October

  • Country of publishing house

    NL - THE KINGDOM OF THE NETHERLANDS

  • Number of pages

    5

  • Pages from-to

    106181

  • UT code for WoS article

    000487573200012

  • EID of the result in the Scopus database

    2-s2.0-85071994766