KCNT1-related epilepsy: An international multicenter cohort of 27 pediatric cases.

Objective: Through international collaboration, we evaluated the phenotypic aspects of a multiethnic cohort of KCNT1-related epilepsy and explored genotype-phenotype correlations associated with frequently encountered variants.

Methods: A cross-sectional analysis of children harboring pathogenic or likely pathogenic KCNT1 variants was completed. Children with one of the two more common recurrent KCNT1 variants were compared with the rest of the cohort for the presence of particular characteristics.

Heterozygous loss of function of is associated with intellectual deficiency, rolandic epilepsy, and language impairment.

Recognition of a de novo mutation in associated with a neurodevelopmental phenotype reinforces its role in 2q23q24 microdeletion syndrome. Using the proband WES data and the probability of loss-of-function intolerance index (pLi) set at 1.0 (highest intolerance constraint), we could target as the candidate gene in this patient.

Prevalence of epilepsy in children from a Brazilian area of high deprivation.

This study assessed the prevalence rate of epilepsy and its causes in children and adolescents in one area of high deprivation in São Paulo, São Paulo, in Southeast Brazil. Between July 2005 and June 2006, 4947 families from a population of 22,013 inhabitants (including 10,405 children and adolescents between the ages of 0 and 16 years) living in the shantytown of Paraisópolis, were interviewed. In the first phase, a validated questionnaire was administered, to identify the occurrence of seizures.