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

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Authors: Hanna C A Lammertse, Annemiek A van Berkel, Michele Iacomino, Ruud F Toonen, Pasquale Striano, Antonio Gambardella, Matthijs Verhage, Federico Zara

Journal title: Brain

Journal number: 143/2

Journal publisher: Oxford University Press

Published year: 2019

Published pages: 441-451

DOI identifier: 10.1093/brain/awz391

ISSN: 0006-8950