Genetics

Levels of select PCB and PBDE congeners in human postmortem brain reveal possible environmental involvement in 15q11-q13 duplication autism spectrum disorder.

Source: 
PubMed
Date Published: 
October 2012
Abstract: 

Results demonstrate a novel paradigm by which specific POPs may predispose to genetic copy number variation of 15q11-q13.

CNVs: harbingers of a rare variant revolution in psychiatric genetics.

Source: 
PubMed
Date Published: 
March 16, 2012
Abstract: 

CNV studies reflects the nature of rare alleles in general and will serve as a guide as we move forward into a new era of whole-genome sequencing.

De Novo Gene Disruptions in Children on the Autistic Spectrum.

Source: 
Neuron
Date Published: 
April 26, 2012
Abstract: 

FMRP-associated genes are under greater purifying selection than the remainder of genes and suggest they are especially dosage-sensitive targets of cognitive disorders.

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder.

Source: 
PubMed
Date Published: 
April 2012
Abstract: 

Findings highlight the applicability of HH mapping in complex disorders such as ASD and offer an alternative approach to the analysis of genome-wide association data.

Genetic Architecture in Autism Spectrum Disorder.

Source: 
Current Opinion in Genetics and Development
Date Published: 
June 2012
Abstract: 

Biological pathways revealed by the deeper list of ASD genes should narrow the targets for therapeutic intervention.

The genetic variability and commonality of neurodevelopmental disease.

Source: 
PubMed
Date Published: 
May 15, 2010
Abstract: 

Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways.

Autistic-like Behaviour and Cerebellar Dysfunction in Purkinje cell Tsc1 Mutant Mice.

Source: 
Nature
Date Published: 
August 30, 2012
Abstract: 

Researchers found molecular basis for a cerebellar contribution to cognitive disorders such as autism.

Autism-associated promoter variant in MET impacts functional and structural brain networks.

Source: 
PubMed
Date Published: 
Sept. 6, 2012
Abstract: 

Findings highlight how genetic stratification may reduce heterogeneity and help elucidate the biological basis of complex neuropsychiatric disorders such as ASD.

Mutations in BCKD-kinase Lead to a Potentially Treatable form of Autism with Epilepsy.

Source: 
Science
Date Published: 
Oct. 19, 2012
Abstract: 

Researchers identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.

Focal Seizures with Affective Symptoms are a Major Feature of PCDH19 Gene-Related Epilepsy.

Source: 
Epilepsia
Date Published: 
December, 2012
Abstract: 

Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. Awareness of this distinctive phenotype will likely enhance recognition of this disorder.