title: Epileptic Encephalopathy Due toBRAT1Pathogenic Variants.
abstract: Investigators from Institut für Medizinische Genetik und Humangenetik have highlighted the role of compound heterozygousBRAT1variants in two German brothers with variable presentations of intractable epilepsy, poor development, postnatal microcephaly, hypertonia, apnea, and infantile/childhood death.
authors.affiliation: Department of Neurology, Boston Children's Hospital, Boston, MA.
authors.forename: Siddharth
authors.initials: S
authors.lastname: Srivastava
authors.affiliation: Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, MA.
authors.forename: Sakkubai
authors.initials: S
authors.lastname: Naidu
keywords: Apnea; BRAT1; Hypertonia; Intractable Epilepsy; Microcephaly