Article

Neuronal network dysfunction in a human model for Kleefstra syndrome mediated by enhanced NMDAR signaling

2019-03-21

Abstract excerpt

Epigenetic regulation of gene transcription plays a critical role in neural network development and in the etiology of Intellectual Disability (ID) and Autism Spectrum Disorder (ASD). However, little is known about the mechanisms by which epigenetic dysregulation leads to neural network defects. Kleefstra syndrome (KS), caused by mutation in the histone methyltransferase EHMT1 , is a neurodevelopmental disorder w...

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Literature Corpus work: 74606678-28e5-54a5-81b6-6554696cf379
DOI: 10.1101/585596

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