Het gen ACACA wordt in 13 verhalen genoemd samen met leren, praten en gedrag

…ch suggested that some people may be sensitive to the dose changes in genes located in the chromosome 17q12 region. A variable phenotype of epilepsy, intellectual disability, and schizophrenia caused by a 12p13.33-p13.32 terminal microdeletion was identified in a Korean family. Among the six candidate genes in this region…

…number variation in bipolar disorder. Mol. Psychiatry. 2016;21:89-93. doi: 10.1038/mp.2014.174. 9. Mefford H.C., Batshaw M.L., Hoffman E.P. Genomics, Intellectual Disability, and Autism. N. Engl. J. Med. 2012;366:733-743. doi: 10.1056/NEJMra1114194. 10. Srivastava A.K., Schwartz C.E. Intellectual disability and autism spe…

…4 , 45 ]. Approximately 30-40% of individuals with DiGeorge syndrome meet diagnostic criteria for ASD [ 46 ]. FXS, the most common inherited cause of intellectual disability, is also strongly associated with ASD, with prevalence estimates indicating that around 50% of males and 16% of females with FXS receive an ASD diagn…

…velopmental and epileptic encephalopathies (DEEs, [MIM: 308350]), a severe group of epilepsies characterized by early-onset, intractable seizures and developmental delay. In contrast, genes discovered for the milder, more common forms of epilepsies - genetic generalized epilepsy (GGE [MIM: 600669]) and non-acquired fo…