Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Abstract

Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygous BRAT1 variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.

Keywords

• intractable epilepsy
• microcephaly
• hypertonia