The genetics of autism

R Muhle, SV Trentacoste, I Rapin - Pediatrics, 2004 - publications.aap.org
Autism is a complex, behaviorally defined, static disorder of the immature brain that is of
great concern to the practicing pediatrician because of an astonishing 556% reported …

Genetics of austim: complex aetiology for a heterogeneous disorder

SE Folstein, B Rosen-Sheidley - Nature Reviews Genetics, 2001 - nature.com
Since autism was first recognized as a disorder in 1943, speculation about its aetiology has
ranged from biological to psychological and back again. After twin studies during the 1970s …

The genetics of autistic disorders and its clinical relevance: a review of the literature

CM Freitag - Molecular psychiatry, 2007 - nature.com
Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the
narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially …

Decreased left perisylvian GABA concentration in children with autism and unaffected siblings

DC Rojas, D Singel, S Steinmetz, S Hepburn… - Neuroimage, 2014 - Elsevier
Imbalanced levels of excitation and inhibition (E/I) have been proposed to account for
various behavioral and electrophysiological phenotypes in autism. Although proton …

Epigenetics of autism spectrum disorders

NC Schanen - Human molecular genetics, 2006 - academic.oup.com
The autism spectrum disorders (ASD) comprise a complex group of behaviorally related
disorders that are primarily genetic in origin. Involvement of epigenetic regulatory …

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism

DQ Ma, PL Whitehead, MM Menold, ER Martin… - The American Journal of …, 2005 - cell.com
Autism is a common neurodevelopmental disorder with a significant genetic component.
Existing research suggests that multiple genes contribute to autism and that epigenetic …

[PDF][PDF] Suppressed GABAergic inhibition as a common factor in suspected etiologies of autism

JP Hussman - J Autism Dev Disord, 2001 - researchgate.net
The primary inhibitory and excitatory amino acid neurotransmitters are gamma-aminobutyric
acid (GABA) and glutamate, respectively. Despite their pervasiveness in brain function and …

The comorbidity of autism with the genomic disorders of chromosome 15q11. 2-q13

A Hogart, D Wu, JM LaSalle, NC Schanen - Neurobiology of disease, 2010 - Elsevier
A cluster of low copy repeats on the proximal long arm of chromosome 15 mediates various
forms of stereotyped deletions and duplication events that cause a group of …

Identification of novel autism candidate regions through analysis of reported cytogenetic abnormalities associated with autism

JAS Vorstman, WG Staal, E Van Daalen… - Molecular …, 2006 - nature.com
The identification of the candidate genes for autism through linkage and association studies
has proven to be a difficult enterprise. An alternative approach is the analysis of cytogenetic …

Decreased GAD67 mRNA levels in cerebellar Purkinje cells in autism: pathophysiological implications

J Yip, JJ Soghomonian, GJ Blatt - Acta neuropathologica, 2007 - Springer
The recent identification of decreased protein levels of glutamate decarboxylase (GAD) 65
and 67 isoforms in the autistic cerebellar tissue raises the possibility that abnormal …