Additional observation of a de novo pathogenic variant in KCNT2 leading to epileptic encephalopathy with clinical features of frontal lobe epilepsy

KCNT2 was recently recognized as a gene associated with neurodevelopmental disorder and epilepsy.

Source: Brain and Development - August 5, 2020 Category: Neurology Authors: Luciana Midori Inuzuka, Lucia In ês Macedo-Souza, Bruno Della-Ripa, Fabiola Paoli Monteiro, Luiza Ramos, João Paulo Kitajima, Eliana Garzon, Fernando Kok Tags: Case Report Source Type: research