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SZT2

Gene product: SZT2 Subunit Of KICSTOR Complex (Seizure Threshold 2 Protein Homolog).

Protein function: As part of the KICSTOR complex (composed of kaptin, ITFG2, C12orf66 and SZT2), it can interact with GATOR1 and GATOR2 to affect the mTORC1 signaling pathway [1].

Phenotype: Developmental and epileptic encephalopathy 18 (AR) (Some may present as Epilepsy Of Infancy With Migrating Focal Seizures) [2-3].

Mutation database: ClinVar.

Clinical research: PubMed (PMID: 38134649 (Seizure. 2024))

Medication reminder: The medication is mainly selected according to different epilepsy syndromes and often refractory to anti-epileptic drugs. There are individual reports that valproate sodium combined with lamotrigine is effective for some patients with this gene mutation [4]. There are also case reports that Epilepsy Of Infancy With Migrating Focal Seizures caused by gene mutations has a certain therapeutic effect on potassium bromide [3].

 

References:

  1. SZT2 dictates GATOR control of mTORC1 signalling. Nature. 2017 Mar 16;543(7645):433-437.
  2. Biallelic SZT2 mutations cause infantile encephalopathy with epilepsy and dysmorphic corpus callosum. Am J Hum Genet . 2013 Sep 5;93(3):524-9.
  3. A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant. Epilepsia Open. 2021 Jan 7;6(1):73-78.
  4. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review. Seizure. 2024 Jan:114:111-120.