Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1

We report a 10-year-old boy who had de novo, heterozygous G392R likely pathogenic variant in the SERPINI1 with early-onset rapidly progressive myoclonic epilepsy.

Source: Seizure: European Journal of Epilepsy - June 15, 2020 Category: Neurology Authors: B ülent Kara, Cansu Eğilmez Sarıkaya, Yunus Emre Bayrak, Ayfer Sakarya Güneş, Mesut Güngör, Gözde Yeşil Tags: Clinical letter Source Type: research