STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
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ABSTRACT:
SUBMITTER: Abramov D
PROVIDER: S-EPMC7812771 | biostudies-literature | 2021 Apr
REPOSITORIES: biostudies-literature
Publications
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov Debra D Guiberson Noah Guy Lewis NGL Burré Jacqueline J
Journal of neurochemistry 20200804 2
Mutations in Munc18-1/STXBP1 (syntaxin-binding protein 1) are linked to various severe early epileptic encephalopathies and neurodevelopmental disorders. Heterozygous mutations in the STXBP1 gene include missense, nonsense, frameshift, and splice site mutations, as well as intragenic deletions and duplications and whole-gene deletions. No genotype-phenotype correlation has been identified so far, and patients are treated by anti-epileptic drugs because of the lack of a specific disease-modifying ...[more]
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