Article

Presynaptic dysfunction in <i>CASK</i> -related neurodevelopmental disorders

2019-12-09

Abstract excerpt

<h4>Summary</h4> CASK -related disorders are a genetically defined group of neurodevelopmental syndromes. There is limited information about the effects of CASK mutations in human neurons. Therefore, we sought to delineate CASK mutation consequences and neuronal level effects using induced pluripotent stem cell-derived neurons from two mutation carriers; one male diagnosed with ASD and a female with MICPCH. We...

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Literature Corpus work: ee1651cb-3f27-51f7-952d-f15dc19f84a6
DOI: 10.1101/863308

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