Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission. Lammertse HCA, van Berkel AA, Iacomino M, Toonen RF, et al. Brain 2020;143:441-451.

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Amedeo Smart

Independent Medical Education

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Lammertse HCA, van Berkel AA, Iacomino M, Toonen RF, et al. Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission. Brain 2020;143:441-451.
PMID: 31855252