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Paper Details

De novo STXBP1 mutation in a child with developmental delay and spasticity reveals a major structural alteration in the interface with syntaxin 1A.
Am J Med Genet B Neuropsychiatr Genet
5
2020
Munc-18, R39dup, R39dup complexes, SNARE complex, STXBP1, STXBP1 mutations, STXBP1-related disorders, arginine, child, developmental delay, encephalopathy, epilepsy, human, hypotonia, neurological and neurodevelopmental conditions, phosphorylated STXBP1, spasticity, syntaxin, syntaxin 1A, syntaxin 1A complex
Author NameAffiliation
Dina Schneidman-DuhovnyInstitute of Life Sciences, The Hebrew University of Jerusalem
Dina Schneidman-DuhovnyThe Hebrew University of Jerusalem
Dina Schneidman-DuhovnyInstitute of Life Sciences, The Hebrew University of Jerusalem
Dina Schneidman-DuhovnyThe Hebrew University of Jerusalem
Michal LinialInstitute of Life Sciences, The Hebrew University of Jerusalem
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Release 1.2