Category Archives: Genetics

Autism Prevalence – Atlanta 1991 -2010

Trends in the Prevalence of Autism Spectrum Disorder, Cerebral Palsy, Hearing Loss, Intellectual Disability, and Vision Impairment, Metropolitan Atlanta, 1991-2010. Free Full Text at Link Abstract This study examined the prevalence and characteristics of autism spectrum disorder (ASD), cerebral … Continue reading

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Autism – Cleanroom Intervention impact on Autism and Immune Dysregulation.

A cleanroom sleeping environment’s impact on markers of oxidative stress, immune dysregulation, and behavior in children with autism spectrum disorders. Abstract BACKGROUND: An emerging paradigm suggests children with autism display a unique pattern of environmental, genetic, and epigenetic triggers … Continue reading

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Autism – Social Deficits driven by expression of Immune Gene Networks

Association of brain immune genes with social behavior of inbred mouse strains  Background Social deficit is one of the core symptoms of neuropsychiatric diseases, in which immune genes play an important role. Although a few immune genes have been … Continue reading

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Genes / Environment – Autism Twin Study

The Relationship Among Genetic Heritability, Environmental Effects, and Autism Spectrum Disorders: 37 Pairs of Ascertained Twin Study. Abstract Autism spectrum disorders (ASD) comprise a heterogeneous group of neurodevelopmental disorders that have strong heritability. To better understand the heritable factors in … Continue reading

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Chronic Inflammation – Inflammatory Bowel Disease – Hippocampal Neurogenesis

Chronic intestinal inflammation alters hippocampal neurogenesis Background Adult neurogenesis in the subgranular zone of the hippocampus is involved in learning, memory, and mood control. Decreased hippocampal neurogenesis elicits significant behavioral changes, including cognitive impairment and depression. Inflammatory bowel disease … Continue reading

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CACNA1 – Epilepsy and Autism

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms.  Abstract CACNA1A loss-of-function mutations classically present as episodic ataxia type 2 (EA2), with brief episodes of ataxia and nystagmus, or with progressive spinocerebellar ataxia (SCA6). A … Continue reading

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SIK1 – Epileptic Seizure Disorders and Autism

De Novo Mutations in SIK1 Cause a Spectrum of Developmental Epilepsies. Abstract Developmental epilepsies are age-dependent seizure disorders for which genetic causes have been increasingly identified. Here we report six unrelated individuals with mutations in salt-inducible kinase 1 (SIK1) … Continue reading

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Epigenetics confirmed – Implications for Autism

DNA can’t explain all inherited traits University of Edinburgh Traits passed between generations are not decided only by DNA, but can be brought about by other materials in cells. Edinburgh scientists studied proteins found in cells, known as histones, which … Continue reading

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Potassium Channels and their importance in ASD

Update on the implication of potassium channels in autism: K(+) channelautism spectrum disorder. FULL PAPER AT LINK Abstract Autism spectrum disorders (ASDs) are characterized by impaired ability to properly implement environmental stimuli that are essential to achieve a state … Continue reading

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Genetic Overlap – Fever Associated Epilepsy and Autism.

Investigating the genetic basis of fever-associated syndromic epilepsies using copy number variation analysis. Abstract Fever-associated syndromic epilepsies ranging from febrile seizures plus (FS+) to Dravet syndrome have a significant genetic component. However, apart from SCN1A mutations in >80% of … Continue reading

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