Homozygous STXBP1 variant causes encephalopathy and...

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Brain 2019 / 12

Homozygous STXBP1 variant causes encephalopathy and gain-of-function in synaptic transmission

Lammertse, Hanna C A, van Berkel, Annemiek A, Iacomino, Michele, Toonen, Ruud F, Striano, Pasquale, Gambardella, Antonio, Verhage, Matthijs, Zara, Federico
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Language:
english
Journal:
Brain
DOI:
10.1093/brain/awz391
Date:
December, 2019
File:
PDF, 1.09 MB
english, 2019
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