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Article

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

Orphanet journal of rare diseases - 2 May 2018

Staněk David, Laššuthová Petra, Štěrbová Katalin, Vlčková Markéta, Neupauerová Jana, Krůtová Marcela, Seeman Pavel

Abstract excerpt

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...

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Identifiers

PMID: 29720203
DOI: 10.1186/s13023-018-0812-8
PMCID: PMC5932755

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