Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort.

ABSTRACT: Epilepsy is common in early childhood. In this age group it is associated with high rates of therapy-resistance, and with cognitive, motor, and behavioural comorbidity. A large number of genes, with wide ranging functions, are implicated in its aetiology, especially in those with therapy-resistant seizures. Identifying the more common single-gene epilepsies will aid in targeting resources, the prioritization of diagnostic testing and development of precision therapy. Previous studies of genetic testing in epilepsy have not been prospective and population-based. Therefore, the population-incidence of common genetic epilepsies remains unknown. The objective of this study was to describe the incidence and phenotypic spectrum of the most common single-gene epilepsies in young children, and to

SUBMITTER: Symonds JD 

PROVIDER: S-EPMC6658850 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature