Chapter 7. Repetitive Motor Behaviors and Seizure Phenotypes

Brune CW et al., 2006. 5-HTTLPR genotype-specific phenotype in children and adolescents with autism. Am J Psychiatry. 163(12):2148-56.

Chugani DC et al., 2004. Serotonin in autism and pediatric epilepsies. Ment Retard Dev Disabil Res Rev. 10(2):112-6.

Dambach H et al., 2014. Glia and epilepsy: experimental investigation of antiepileptic drugs in an astroglia/microglia co-culture model of inflammation. Epilepsia. 55(1):184-92. doi: 10.1111/epi.12473.

de Silva MG et al., 2003. Disruption of a novel member of a sodium/hydrogen exchanger family and DOCK3 is associated with an attention deficit hyperactivity disorder-like phenotype. J Med Genet. 40(10):733-40.

Díaz-Anzaldúa A, to al., 2015. Possible endophenotypes in the search for genetic risk factors in autism spectrum disorders in: “Autism Spectrum Disorder – Recent Advances”, Michael Fitzgerald (Ed) , ISBN 978-953-51-2037-7, Published: April 2, 2015 under CC BY 3.0 license.

Duyu Nie et al., 2010. Tsc2-Rheb signaling regulates EphA-mediated axon guidance. Nature Neuroscience, January 10, 2010

Fassio, A., et al., 2011. SYN1 loss-of-function mutations in ASD and partial epilepsy cause impaired synaptic function. Human Molecular Genetics, 2011; DOI: 10.1093/hmg/ddr122

Fournier KA et al., 2010. Motor coordination in autism spectrum disorders: a synthesis and meta-analysis. J Autism Dev Disord. 40(10):1227-40. doi: 10.1007/s10803-010-0981-3.

Garbern JY et al., 2010. A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition. Brain 133(Pt 5):1391-402. doi: 10.1093/brain/awq071.

Gilfillan GD et al., 2008. SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome. Am J Hum Genet82(4):1003-10. doi: 10.1016/j.ajhg.2008.01.013.

Gotham K et al., 2013. Exploring the relationship between anxiety and insistence on sameness in autism spectrum disorders. Autism Res. 6(1):33-41. doi: 10.1002/aur.1263.

Green D et al., 2009. Impairment in movement skills of children with autistic spectrum disorders. Dev Med Child Neurol. 51(4):311-6. doi: 10.1111/j.1469-8749.2008.03242.x.

Hallmayer, J., et al., Genetic heritability and shared environmental factors among twin pairs with autism. Arch Gen Psychiatry, 2011. 68(11): p. 1095-102.

Hilton C et al., 2012. Motor impairment in sibling pairs concordant and discordant for autism spectrum disorders. Autism. 16(4):430-41. doi: 10.1177/1362361311423018.

Isenhower, R. 2012. Rhythmic bimanual coordination is impaired in young children with autism spectrum disorder. Research in Autism Spectrum Disorders 6:25-31.

Lasky-Su J et al., 2008. Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder. Am J Med Genet B Neuropsychiatr Genet. 147B(8):1355-8. doi: 10.1002/ajmg.b.30869.

Lehrmann E et al., 2008. Glial activation precedes seizures and hippocampal neurodegeneration in measles virus-infected mice. Epilepsia. Suppl 2:13-23. doi: 10.1111/j.1528-1167.2008.01489.x.

Lewis M and S-J Jim. 2009. The pathophysiology of restricted repetitive behavior. J Neurodev Disord. 1(2): 114–132.

Markram K and H Markram. 2010. The intense world theory – a unifying theory of the neurobiology of autism. Front Hum Neurosci.4:224. doi: 10.3389/fnhum.2010.00224.

Morrow EM et al., 2008. Identifying autism loci and genes by tracing recent shared ancestry. Science 321(5886):218-23. doi: 10.1126/science.1157657.

Nair A et al., 2013. Impaired thalamocortical connectivity in autism spectrum disorder: a study of functional and anatomical connectivity. Brain. 136(Pt 6):1942-55. doi: 10.1093/brain/awt079.

Nurmi EL et al., 2001. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Genomics. 77(1-2):105-13.

Pelphrey KA et al., 2005. Neural basis of eye gaze processing deficits in autism. Brain. 128(Pt 5):1038-48.

Shao Y et al., 2003. Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes. Am J Hum Genet. 72(3):539-48.

Silverman JM et al., 2008. Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism. Am J Med Genet B Neuropsychiatr Genet. 147(3):408-10.

Spengler S et al., 2010. Hyperimitation of actions is related to reduced understanding of others’ minds in autism spectrum conditions. Biol Psychiatry. 68(12):1148-55. doi: 10.1016/j.biopsych.2010.09.017.

Xu S et al., 2008. Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism. Cytogenet Genome Res. 122(2):181-7. doi: 10.1159/000172086.

Zhan Y et al., 2014. Deficient neuron-microglia signaling results in impaired functional brain connectivity and social behavior. Nat Neurosci. 17(3):400-6. doi: 10.1038/nn.3641.

Zsurka, G et al. 2015. Mitochondrial dysfunction and seizures: the neuronal energy crisis. The Lancet http://dx.doi.org/10.1016/S1474-4422(15)00148-9.

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