Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

• Main Authors: Siddharth Srivastava (Author), Sakkubai Naidu (Author)
• פורמט: ספר
• יצא לאור: Pediatric Neurology Briefs Publishers, 2016-12-01T00:00:00Z.
• נושאים: article
• גישה מקוונת: Connect to this object online.

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 de...