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Tag: SCN2A

September 2014
News

Analysis predicts odds of mutations’ link to autism

by  /  11 September 2014

A new method of statistical analysis can predict whether a rare mutation identified in someone with autism has a meaningful association with the disorder or was found only by chance, researchers reported in the September issue of Nature Genetics.

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November 2013
News

Studies map gene expression across brain development

by  /  21 November 2013

Now that genetic studies have implicated several hundred genes in autism, researchers are turning their attention to where and when in the healthy young brain these genes are expressed. The first two studies to tackle these questions appear today in Cell.

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September 2013
News

In autism, intellectual disability ramps up new mutations

by  /  10 September 2013

Spontaneous mutations are elevated in people with autism, but only in those who also have intellectual disability, according to unpublished data presented yesterday at a conference in Cambridge, Massachusetts. 

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August 2013
News

Whole-genome sequencing unearths new autism mutations

by  /  1 August 2013

The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.

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April 2012
News

Large sequencing study ties autism genes to fragile X

by  /  26 April 2012

Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.

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News

Hundreds of genes involved in autism, sequencing studies say

by  /  4 April 2012

The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.

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September 2011
News

Autism exome study pinpoints mutations in brain genes

by  /  14 September 2011

Children with autism carry many more spontaneous point mutations in genes expressed in the brain compared with their unaffected siblings, according to unpublished findings presented Monday at the World Congress of Psychiatric Genetics in Washington, D.C.

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