Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy

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Abstract

We describe an 18-year-old male patient with myoclonic astatic epilepsy (MAE), moderate to severe intellectual disability, behavioural problems, several dysmorphisms and a 1.2-Mb de novo deletion on chromosome 16p11.2. This deletion results in haploinsufficiency of STX1B and other genes. Recently, variants in the STX1B gene have been associated with a wide spectrum of fever-related epilepsies ranging from single febrile seizures to severe epileptic encephalopathies. Two previously reported patients with a STX1B missense variant or deletion were diagnosed with MAE. Our observation of a STX1B deletion in a third patient with MAE therefore supports that STX1B gene variants or deletions can be involved in the aetiology of MAE. Furthermore, STX1B encodes for syntaxin-1B, of which interaction with the protein encoded by the STXBP1 gene is essential for the regulation of the synaptic transmission of neurotransmitters. STXBP1 gene variants have been identified in patients with many different types of epilepsy, including Dravet syndrome and epileptic encephalopathies, suggesting STX1B plays a similar role. We recommend that analysis of STX1B should be considered in the diagnostic work-up of individuals with MAE. (C) 2016 European Paediatric Neurology Society. Published by Elsevier Ltd. All rights reserved.

Original languageEnglish
Pages (from-to)489-492
Number of pages4
JournalEuropean Journal of Paediatric Neurology
Volume20
Issue number3
DOIs
Publication statusPublished - May-2016

Keywords

  • Aetiology
  • Doose syndrome
  • Genetics
  • Myoclonic astatic epilepsy
  • STX1B
  • adult
  • case report
  • chromosome 16p
  • diagnosis
  • febrile convulsion
  • fever
  • gene deletion
  • genetic predisposition
  • haploinsufficiency
  • human
  • infantile spasm
  • intellectual impairment
  • male
  • missense mutation
  • myoclonic astatic epilepsy
  • problem behavior
  • severe myoclonic epilepsy in infancy
  • synaptic transmission
  • neurotransmitter
  • syntaxin 1
  • syntaxin 1A

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