Monthly Archives: April 2015

CACNA1 – Epilepsy and Autism

CACNA1A haploinsufficiency causes cognitive impairment, autism and epileptic encephalopathy with mild cerebellar symptoms. http://www.ncbi.nlm.nih.gov/pubmed/25735478  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. http://www.ncbi.nlm.nih.gov/pubmed/25839329 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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Maternal Immune Activation and Neuropathology in Nonhuman Primates

Preliminary evidence of neuropathology in nonhuman primates prenatally exposed to maternal immune activation. http://www.ncbi.nlm.nih.gov/pubmed/25816799 Abstract Maternal infection during pregnancy increases the risk for neurodevelopmental disorders in offspring. Rodent models have played a critical role in establishing maternal immune activation (MIA) … Continue reading

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