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Article

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.

Journal of medical genetics - 1 Dec 2012

Courcet Jean-Benoît, Faivre Laurence, Malzac Perrine, Masurel-Paulet Alice, Lopez Estelle, Callier Patrick, Lambert Laetitia, Lemesle Martine, Thevenon Julien, Gigot Nadège, Duplomb Laurence, Ragon Clémence, Marle Nathalie, Mosca-Boidron Anne-Laure, Huet Frédéric, Philippe Christophe, Moncla Anne, Thauvin-Robinet Christel

Abstract excerpt

BACKGROUND: DYRK1A plays different functions during development, with an important role in controlling brain growth through neuronal proliferation and neurogenesis. It is expressed in a gene dosage dependent manner since dyrk1a haploinsufficiency induces a reduced brain size in mice, and DYRK1A overexpression is the candidate gene for intellectual disability (ID) and microcephaly in Down syndrome. We have...

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PMID: 23099646
DOI: 10.1136/jmedgenet-2012-101251

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The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.PMID 23099646Read ↗

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