Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F18%3A10375255" target="_blank" >RIV/00216208:11130/18:10375255 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/18:10375255

Result on the web

<a href="https://doi.org/10.1186/s13023-018-0812-8" target="_blank" >https://doi.org/10.1186/s13023-018-0812-8</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1186/s13023-018-0812-8" target="_blank" >10.1186/s13023-018-0812-8</a>

Result language

angličtina

Original language name

Detection rate of causal variants in severe childhood epilepsy is highest in patients with seizure onset within the first four weeks of life

Original language description

Background: Epilepsy is a heterogeneous disease with a broad phenotypic spectrum and diverse genotypes. A significant proportion of epilepsies has a genetic aetiology. In our study, a custom designed gene panel with 112 genes known to be associated with epilepsies was used. In total, one hundred and fifty-one patients were tested (86 males / 65 females). Results: In our cohort, the highest probability for the identification of the cause of the disease was for patients with a seizure onset within the first four weeks of life (61.9% clarification rate) - about two times more than other groups. The level of statistical significance was determined using a chi-square analysis. From 112 genes included in the panel, suspicious and rare variants were found in 53 genes (47.3%). Among the 151 probands included in the study we identified pathogenic variants in 39 patients (25.8%), likely pathogenic variants in three patients (2%), variants of uncertain significance in 40 patients (26.5%) and likely benign variants in 69 patients (45.7%). Conclusion: Our report shows the utility of diagnostic genetic testing of severe childhood epilepsies in a large cohort of patients with a diagnostic rate of 25.8%. A gene panel can be considered as a method of choice for the detection of pathogenic variants within patients with unknown origin of early onset severe epilepsy.

Czech name

—

Czech description

—

Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30103 - Neurosciences (including psychophysiology)

Project

<a href="/en/project/NV15-33041A" target="_blank" >NV15-33041A: Massive parallel sequencing of genes related to infantile epilepsies and epileptic encephalopathies for diagnostics of epilepsy in Czech patients.</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2018

Confidentiality

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

Name of the periodical

Orphanet Journal of Rare Diseases

ISSN

1750-1172

e-ISSN

—

Volume of the periodical

13

Issue of the periodical within the volume

May

Country of publishing house

GB - UNITED KINGDOM

Number of pages

8

Pages from-to

—

UT code for WoS article

000431528900003

EID of the result in the Scopus database

2-s2.0-85046427100