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STX1B

Gene product: syntaxin 1B.

Protein function: It participates in the formation of soluble N-ethylmaleimide sensitive factor attachment receptor (SNARE) complex and can interact with STXBP1 (syntaxin binding protein 1), participating in the transport and fusion of synaptic vesicles [1].

Phenotype: Febrile Seizures Plus, Genetic Epilepsy With Febrile Seizures Plus (AD)[2]；Epilepsy With Myoclonic-Atonic Seizures (Doose Syndrome) (AD)[3]；Juvenile Myoclonic Epilepsy（AD）[4]。

Mutation database: ClinVar.

Clinical research: PubMed（PMID: 30737342 (Neurology. 2019)）

Medication reminder: The choice of medication is mainly based on the different epilepsy syndromes. Currently, it has been reported that some patients respond to levetiracetam, sodium valproate, lamotrigine, and topiramate [1, 5].

 

References:

  1. 蓝明平,陈嘉蕾,刘平,等.STX1B基因相关癫痫一家系报告并文献复习[J].中国实用儿科杂志, 2024, 39(1):73-76.
  2. Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes. Nat Genet. 2014 Dec;46(12):1327-32.
  3. Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. Eur J Paediatr Neurol. 2016 May;20(3):489-92.
  4. Clinical spectrum of STX1B-related epileptic disorders. Neurology. 2019 Mar 12;92(11):e1238-e1249.
  5. A novel inherited STX1B mutation associated with generalized epilepsy with febrile seizures plus: a family analysis and literature review. Zhonghua Er Ke Za Zhi. 2019 Mar 2;57(3):206-210.