Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Siddharth Srivastava; Sakkubai Naidu

doi:10.15844/pedneurbriefs-30-12-1

Epileptic Encephalopathy Due to BRAT1 Pathogenic Variants

Pediatr Neurol Briefs. 2016 Dec;30(12):45. doi: 10.15844/pedneurbriefs-30-12-1.

Authors

Siddharth Srivastava¹, Sakkubai Naidu²

Affiliations

¹ Department of Neurology, Boston Children's Hospital, Boston, MA.
² Hugo W. Moser Research Institute at Kennedy Krieger Institute, Baltimore, MA.

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: Apnea; BRAT1; Hypertonia; Intractable Epilepsy; Microcephaly.

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