Swipe om te navigeren naar een ander artikel
Autism and epilepsy are common childhood neurological disorders with a great heterogeneity of clinical phenotypes as well as risk factors. There is a high co-morbidity of autism and epilepsy. The neuropathology of autism and epilepsy has similar histology implicating the processes of neurogenesis, neural migration, programmed cell death, and neurite outgrowth. Genetic advances have identified multiple molecules that participate in neural development, brain network connectivity, and synaptic function which are involved in the pathogenesis of autism and epilepsy. Mutations in GABAA receptor subunit have been frequently associated with epilepsy, autism, and other neuropsychiatric disorders. In this paper, we address the hypothesis that functional deficiency of GABAergic signaling is a potential common molecular mechanism underpinning the co-morbidity of autism and epilepsy.
Log in om toegang te krijgen
Met onderstaand(e) abonnement(en) heeft u direct toegang:
Antar, L. N., Afroz, R., Dictenberg, J. B., Carroll, R. C., & Bassell, G. J. (2004). Metabotropic glutamate receptor activation regulates fragile × mental retardation protein and FMR1 mRNA localization differentially in dendrites and at synapses. Journal of Neuroscience, 24(11), 2648–2655. PubMedCrossRef
Bear, M. F., Huber, K. M., et al. (2004). The mGluR theory of fragile × mental retardation. Trends in Neurosciences, 7, 370–377. CrossRef
Benbadis, S. R. (2005). The management of idiopathic generalized epilepsies. Acta Neurologica Scandinavica, 112(supp. 181), 63–67. CrossRef
Chang, Y., Wang, R., et al. (1996). Stoichiometry of a recombinant GABAA receptor. Journal of Neuroscience, 16(17), 5415–5424. PubMed
Cook, E. H., Jr., Lindgren, V., et al. (1997). Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. American Journal of Human Genetics, 60(4), 928–934. PubMed
Cuccaro, M. L., Tuchman, R. F., et al. (2011). Exploring the relationship between autism spectrum disorder and epilepsy using latent class cluster analysis. Journal of Autism and Developmental Disorders. [Epub ahead of print].
DeLorey, T. M., Handforth, A., et al. (1998). Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. Journal of Neuroscience, 18(20), 8505–8514. PubMed
DeLorey, T. M., Sahbaie, P., et al. (2008). Gabrb3 gene deficient mice exhibit impaired social and exploratory behaviors, deficits in non-selective attention and hypoplasia of cerebellar vermal lobules: A potential model of autism spectrum disorder. Behavioural Brain Research, 187(2), 207–220. PubMedCrossRef
DeMyer, M. K. (1975). Research in infantile autism: A strategy and its results. Biological Psychiatry, 10(4), 433–452. PubMed
Deykin, E. Y., & MacMahon, B. (1979). The incidence of seizures among children with autistic symptoms. American Journal of Psychiatry, 136(10), 1310–1312. PubMed
Fatemi, S. H., Folsom, T. D., Kneeland, R. E., & Liesch, S. B. (2011). Metabotropic glutamate receptor 5 upregulation in children with autism is associated with underexpression of both Fragile × mental retardation protein and GABAA receptor beta 3 in adults with autism. Anat Rec (Hoboken), 294(10), 1635–1645. CrossRef
Fu, C., Cawthon, B., et al. (2011). GABAergic interneuron development and function is modulated by the Tsc1 gene. Cereberal Cortex. doi: 10.1093/cercor/bhr300.
Hawkins, N. A., Martin, M. S., et al. (2011). Neuronal voltage-gated ion channels are genetic modifiers of generalized epilepsy with febrile seizures plus. Neurobiology of Diseases, 41(3), 655–660. CrossRef
Hogart, A., Wu, D., et al. (2010). The comorbidity of autism with the genomic disorders of chromosome 15q11.2–q13. Neurobiology of Disease, 38(2):181–191 (Review).
Hughes, J. R., & Melyn, M. (2005). EEG and seizures in autistic children and adolescents: Further findings with therapeutic implications. Clinical EEG & Neuroscience Journal, 36(1), 15–20. CrossRef
Laurie, D. J., Wisden, W., et al. (1992). The distribution of thirteen GABAA receptor subunit mRNAs in the rat brain. III. Embryonic and postnatal development. Journal of Neuroscience, 12(11), 4151–4172. PubMed
Li, B. M., et al. (2011). Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation. Epilepsy & Behavior, 21(3), 291–295. CrossRef
Lotter, V. (1974). Factors related to outcome in autistic children. Journal of Autism and Schizophrenia, 4(3), 263–277. CrossRef
Maric, D., Liu, Q. Y., et al. (2001). GABA expression dominates neuronal lineage progression in the embryonic rat neocortex and facilitates neurite outgrowth via GABA(A) autoreceptor/Cl- channels. The Journal of Neuroscience, 21(7), 2343–2360. PubMed
Marrosu, F., Marrosu, G., et al. (1987). Paradoxical reactions elicited by diazepam in children with classic autism. Functional Neurology, 2(3), 355–361. PubMed
McCall, M. A., Lukasiewicz, P. D., et al. (2002). Elimination of the rho1 subunit abolishes GABA(C) receptor expression and alters visual processing in the mouse retina. Journal of Neuroscience, 22(10), 4163–4174. PubMed
McCauley, J. L., Olson, L. M., et al. (2004). A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 131B(1), 51–59. CrossRef
Mori, T., Mori, K., et al. (2011). Evaluation of the GABAergic nervous system in autistic brain: (123)I-iomazenil SPECT study. Brain Developement. [Epub ahead of print].
Oblak, A. L. et al. (2010). Reduced GABA(A) receptors and benzodiazepine binding sites in the posterior cingulate cortex and fusiform gyrus in autism. Brain Research, 1380:218–228. [Epub 2010 Sep 19].
Powell, E. M., et al. (2003). Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. Journal of Neuroscience, 23(2), 622–631. PubMed
Sander, J. W., & Shorvon, S. D. (1996). Epidemiology of the epilepsies. Journal of Neurology, Neurosurgery and Psychiatry, 61, 433–443. CrossRef
Sasaki, M., et al. (2010). Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy. Brain Developement, 32(9), 776–782. CrossRef
- A Common Susceptibility Factor of Both Autism and Epilepsy: Functional Deficiency of GABAA Receptors
- Springer US