STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies
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DOI: 10.1111/jnc.15120
Abstract: 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… read more here.
Keywords: stxbp1 encephalopathies; disease mechanisms; disease; encephalopathies clinical ... See more keywords