Tag: ion channels

September 2011
News

First mouse model of Timothy syndrome debuts

by  /  5 September 2011

Researchers have created the first mouse model of Timothy syndrome, a rare genetic disorder that causes heart defects and autism. The findings appeared 30 August in the Proceedings of the National Academy of Sciences.

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August 2011
News / Toolbox

Modified stem cells make glowing neurons

by  /  10 August 2011

A new technique allows researchers to make stable modifications to neurons by incorporating modified amino acids into the proteins of stem cells. The method permits researchers to investigate neuronal function in live, intact cells.

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May 2011
News

Molecular mechanisms: Gene linked to autism and epilepsy

by  /  25 May 2011

Harmful mutations in a gene that regulates the chemical environment outside of neurons are associated with both autism and epilepsy, according to a study published 31 March in Neurobiology of Disease.

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News

Scientists probe puzzling overlap of epilepsy and autism

by  /  12 May 2011

Large studies on the epidemiology and genetics of epilepsy and autism have uncovered commonalities between the two disorders. But scientists are only beginning to untangle the biological roots of the overlap.

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April 2011
News

Genetics: Deep sequencing reveals rare mutations

by  /  5 April 2011

Rare mutations with strong effects play a key role in autism and schizophrenia, according to a study published in February in PLoS Genetics. The study identifies rare harmful mutations in three candidate genes that are more common in individuals with one of the disorders than in controls.

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January 2011
News

Genetics: Including gender improves autism genetics research

by  /  24 January 2011

Accounting for gender increases the power of family-wide studies linking genetic mutations with autism, according to a study published in December in Molecular Psychiatry. The researchers use this approach to identify two candidate genes for the disorder.

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November 2010
News

Mouse model of Timothy syndrome shows social deficits

by  /  15 November 2010

Mice bearing the genetic defect that causes Timothy syndrome show many autism-like behaviors, and may also have enhanced cognitive abilities like those seen in a small number of people with autism, suggests a poster presented Sunday at the Society for Neuroscience annual meeting in San Diego.

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August 2010
News

Fragile X protein linked to potassium channels

by  /  24 August 2010

Mouse models of fragile X syndrome show defects in two kinds of potassium channels — ubiquitous pores that control the flow of electrical current across neurons — in a brain area that processes sound, according to two papers published this summer.

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July 2010
News

Synaptic defects link autism, schizophrenia

by  /  2 July 2010

Several independent groups have found previously unknown risk genes for autism, schizophrenia and mental retardation. The candidate genes have one thing in common: they encode proteins that are needed for the healthy function of synapses, the junctions between neurons.

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June 2010
News

Researchers identify biological roles for fragile X protein

by  /  1 June 2010

FMRP, the protein missing in fragile X syndrome, is needed for the birth of new neurons, for regulating the translation of RNA into protein, and for maintaining the structural integrity of spiny neuronal projections, according to several new studies.

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