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

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...

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Detalles Bibliográficos
Autores principales: Staněk, David, Laššuthová, Petra, Štěrbová, Katalin, Vlčková, Markéta, Neupauerová, Jana, Krůtová, Marcela, Seeman, Pavel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932755/
https://www.ncbi.nlm.nih.gov/pubmed/29720203
http://dx.doi.org/10.1186/s13023-018-0812-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5932755/
https://www.ncbi.nlm.nih.gov/pubmed/29720203
http://dx.doi.org/10.1186/s13023-018-0812-8

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