Article

Pathogenic <i>MAPK8IP3</i> variants drive distinct motor and behavioral phenotypes in humans and mice

2026-07-24

Abstract excerpt

<h4>ABSTRACT</h4> Pathogenic variants in MAPK8IP3 (JIP3) cause Neurodevelopmental Disorder with or without variable Brain Abnormalities (NEDBA), characterized by cognitive impairment, global developmental delay, motor dysfunction, abnormal muscle tone, behavioral dysregulation including autism and attention deficit hyperactivity disorder (ADHD), seizures, and structural brain abnormalities. While more than 30 la...

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Literature Corpus work: 6729b260-23cb-5de1-9de6-76f8f3f9c490
DOI: 10.64898/2026.07.20.739682

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