What’s new with KCNT1 – a 2016 update

Continued expansion of the KCNT1 phenotype. In 2012, de novo heterozygous KCNT1 variants were first described in six individuals with migrating partial seizures of infancy (MPSI) (Barcia et al, 2012). In the same edition of Nature Genetics, Heron and colleagues (2012) described 3 families with frontal lobe epilepsy with prominent psychiatric features were also identified to have heterozygous disease-causing variants in KCNT1. Within the last 5 years, de novo and inherited heterozygous KCNT1 variants have been found in a number of patients with MPSI and ADNFLE. Yet, there have been no clear genotype-phenotype correlations established. Recently, several studies have identified KCNT1 variants in patients with other types of epilepsy. Keep reading to learn more about the expansion of the KCNT1-associated epilepsy phenotype. Continue reading