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

doi:10.1136/jmedgenet-2012-101251

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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...

Topics

Adolescent
Base Sequence
Child
Child, Preschool
Electroencephalography
Epilepsy
Facies
Female
Gene Order
Genotype

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Humans

Intellectual Disability

Male

Microcephaly

Mutation

Phenotype

Protein Serine-Threonine Kinases

Protein-Tyrosine Kinases

Source

Open in PubMed

Identifiers

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 ↗

Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.Semantic proximity Read ↗

DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies.Semantic proximity Read ↗

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DYRK1A, a Dosage-Sensitive Gene Involved in Neurodevelopmental Disorders, Is a Target for Drug Development in Down SyndromeSemantic proximity Read ↗

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Novel Causative Variants in DYRK1A, KARS, and KAT6A Associated with Intellectual Disability and Additional Phenotypic FeaturesSemantic proximity Read ↗

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