Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Genetics,General Medicine
Reference25 articles.
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3. Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome;Camarena;EMBO Mol. Med.,2014
4. 2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features;Chung;Am. J. Med. Genet. A,2011
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1. A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectual Disability: Potential Implications on Neural Primary Cilia;International Journal of Molecular Sciences;2023-08-09
2. MBD5 regulates NMDA receptor expression and seizures by inhibiting Stat1 transcription;Neurobiology of Disease;2023-06
3. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene;Journal of Alzheimer's Disease;2021-10-26
4. Emerging multifaceted roles of BAP1 complexes in biological processes;Cell Death Discovery;2021-01-22
5. The Variable Expression of a Novel MBD5 Gene Frameshift Mutation in an Italian Family;Neuropediatrics;2020-12-29
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