Article

Pathogenic <i>MAST3</i> variants in the STK domain are associated with epilepsy

2021-03-12

Abstract excerpt

<h4>Objective</h4> The MAST family of microtubule-associated serine-threonine kinases (STK) have distinct expression patterns in the developing and mature human and mouse brain. To date, only MAST1 has been associated with neurological disease, with de novo variants in individuals with a neurodevelopmental disorder, including a mega corpus callosum. <h4>Methods</h4> Using exome sequencing we identify MAST3 m...

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Literature Corpus work: ee361b6a-6857-5799-9ee5-8f6436a65c25
DOI: 10.1101/2021.03.09.434675

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