Associated Papers
Case report: A novel STXBP1 splice variant and the landscape of splicing-involved STXBP1-related disorders.
Wang H et al.
Frontiers in Neurology, 2023
37056358 (PubMed )
Supplement: Table_1.XLSX › 54_canonical
STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.
Abramov D et al.
Journal of Neurochemistry, 2021
32643187 (PubMed )
Supplement: supplement_1.pdf
A de novo pathogenic CSNK1E mutation identified by exome sequencing in family trios with epileptic encephalopathy.
Chen X et al.
Human Mutation, 2019
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