Timothy Syndrome News and Research

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New method allows for a much more detailed examination of the brain processes

Scientists have developed a research method that allows for a much more detailed examination of the brain processes involved in some neurological and mental disorders.

12 Oct 2022

Study shows how G406R single point mutation of the Cav1.2 channel confers autism

Autism spectrum disorder (ASD) is a heterogeneous disorder initiated early in development and characterized by abnormal social communication. Accumulating evidence supports the idea that specific mutations affect regulatory proteins that control arrays of cellular pathways.

3 Aug 2020

Scientists map autism genetic pathway that regulates brain development

Scientists at the University of California, San Diego School of Medicine have found that mutations that cause autism in children are connected to a pathway that regulates brain development. The research, led by Lilia Iakoucheva, PhD, assistant professor in the Department of Psychiatry, is published in the February 18 issue of Neuron.

19 Feb 2015

Dendrites multiply the brain's computing power

Dendrites, the branch-like projections of neurons, were once thought to be passive wiring in the brain. But now researchers at the University of North Carolina at Chapel Hill have shown that these dendrites do more than relay information from one neuron to the next.

31 Oct 2013

Study explains how Timothy syndrome mutation causes wiring defects that underlie cognition

A new finding in neuroscience for the first time points to a developmental mechanism linking the disease-causing mutation in an autism-related disorder, Timothy syndrome, and observed defects in brain wiring, according to a study led by scientist Ricardo Dolmetsch and published online yesterday in Nature Neuroscience.

16 Jan 2013

Rare syndrome's workings could help explain how brain wiring goes awry

Potential clues to how autism miswires the brain are emerging from a study of a rare, purely genetic form of the disorders that affects fewer than 20 people worldwide. Using cutting-edge "disease-in a-dish" technology, researchers funded by the National Institutes of Health have grown patients' skin cells into neurons to discover what goes wrong in the brain in Timothy Syndrome.

28 Nov 2011

Most people with Timothy syndrome mutation have autistic symptoms

Neuroscientists at Stanford University School of Medicine have homed in on potential differences in autistic people's brain cells by studying brainlike spheres grown in an elaborate process from skin cells.

28 Nov 2011

UB transgenic mouse model of Timothy Syndrome improves understanding of autism

The first transgenic mouse model of a rare and severe type of autism called Timothy Syndrome is improving the scientific understanding of autism spectrum disorder in general and may help researchers design more targeted interventions and treatments.

12 Sep 2011

Scientists analyze structural changes in calcium channels caused by Timothy-mutation

The human genome encodes 243 voltage-gated ion channels. Mutations in calcium channels can cause severe inherited diseases such as migraine, night blindness, autism spectrum disorders and Timothy syndrome, which leads to severe cardiovascular disorders.

15 Jul 2011

Rare heart defect reproduced in petri dish, hope for cure

U.S. researchers have created beating heart cells in the lab with the same heart defect using skin cells taken from children with a rare heart defect. This means they can now test new drugs in human cells instead of mice.

13 Feb 2011

Scientists generate beating heart cells from skin cells of young patients with severe genetic heart defect

Using skin cells from young patients who have a severe genetic heart defect, Stanford University School of Medicine scientists have generated beating heart cells that carry the same genetic mutation. The newly created human heart cells - cardiomyocytes - allowed the researchers for the first time to examine and characterize the disorder at the cellular level.

10 Feb 2011

Timothy syndrome provides clues about enzyme role in arrhythmias

A University of Iowa study provides insight into a calcium-sensing enzyme already known to play a role in irregular heartbeats and other critical functions.

12 Dec 2008

Researchers pinpoint genetic cause of Timothy syndrome

Howard Hughes Medical Institute researchers have pinpointed the genetic cause of a devastating but rare childhood disorder, called Timothy syndrome, which underlies a form of severe cardiac arrhythmia.

4 Oct 2004