STX1B-related epilepsy in a 24-month-old female infant

Burghardt, K; Baba, Naomi; Schreyer, Isolde; Graneß, Irene; Hübner, Christian A.

doi:10.1016/j.ebr.2020.100391

Cited by 1 publication

(1 citation statement)

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“…Most of these mutations were predicted to cause haploinsufficiency of STX1B, resulting in early termination of the protein. Sixty-two individuals have been described so far and the mainly reported phenotype was epilepsy (Table 2) (15)(16)(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28). Wolking et al (23) divides STX1Bassociated epileptic phenotypes in four different groups: (1) benign epilepsy syndrome with febrile and afebrile seizures corresponding to "genetic epilepsies with febrile seizures plus, " (2) "genetic generalized epilepsy" phenotype, (3) "developmental and epileptic encephalopathy" syndrome with refractory seizures and moderate to severe developmental deficits, and (4) focal epilepsy phenotype.…”

Section: Proteins Of the Main Snare Complex Stx1bmentioning

confidence: 99%

Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery

et al. 2022

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SNAREs (soluble N-ethylmaleimide sensitive factor attachment protein receptor) are an heterogeneous family of proteins that, together with their key regulators, are implicated in synaptic vesicle exocytosis and synaptic transmission. SNAREs represent the core component of this protein complex. Although the specific mechanisms of the SNARE machinery is still not completely uncovered, studies in recent years have provided a clearer understanding of the interactions regulating the essential fusion machinery for neurotransmitter release. Mutations in genes encoding SNARE proteins or SNARE complex associated proteins have been associated with a variable spectrum of neurological conditions that have been recently defined as “SNAREopathies.” These include neurodevelopmental disorder, autism spectrum disorder (ASD), movement disorders, seizures and epileptiform abnormalities. The SNARE phenotypic spectrum associated with seizures ranges from simple febrile seizures and infantile spasms, to severe early-onset epileptic encephalopathies. Our study aims to review and delineate the epileptic phenotypes associated with dysregulation of synaptic vesicle exocytosis and transmission, focusing on the main proteins of the SNARE core complex (STX1B, VAMP2, SNAP25), tethering complex (STXBP1), and related downstream regulators.

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