A de novo heterozygous missense BSCL2 variant in 2 siblings with intractable developmental and epileptic encephalopathy

The last 20 years have seen great advances in our understanding of the genetic basis of epilepsy. Next-generation sequencing (NGS) technologies have enabled the discovery of hundreds of genes associated with idiopathic epilepsies, in particular early infantile epileptic encephalopathies [1 –4].

Source: Seizure: European Journal of Epilepsy - July 24, 2019 Category: Neurology Authors: Ana Fern ández-Marmiesse, Sofía Sánchez-Iglesias, Alejandra Darling, María M. O'Callaghan, Raúl Tonda, Cristina Jou, David Araújo-Vilar Source Type: research