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
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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
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