ACACA appears alongside learning, speech and behaviour in 13 sources

…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…