Article

<i>De novo</i> variants in <i>SNAP25</i> cause an early-onset developmental and epileptic encephalopathy

2020-05-15

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Purpose</h4> This study aims to provide the first comprehensive description of the phenotypic and genotypic spectrum of SNAP25 developmental and epileptic encephalopathy (SNAP25- DEE) by reviewing newly identified and previously reported individuals. <h4>Methods</h4> Individuals harboring heterozygous missense or truncating variants in SNAP25 were assembled through collaboration with internat...

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Literature Corpus work: c99c1c1b-231f-594d-b903-f80fccddb2d2
DOI: 10.1101/2020.05.11.20095141

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