Epilepsy

Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy

Submitted by cgold on April 12, 2013 - 14:04
Source: 
Science
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22956686
Date Published: 
October 19, 2012
Abstract: 

A research team led by Gaia Novarino of the University of California, San Diego, has identified genetic mutations which cause a form of autism that could potentially be treated with dietary supplements.

Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy.

Submitted by nlombardi on March 25, 2013 - 13:46
Source: 
PubMed
Link: 
http://www.ncbi.nlm.nih.gov/pubmed/22956686
Date Published: 
Oct. 19, 2012
Abstract: 

Identified inactivating mutations in the gene BCKDK (Branched Chain Ketoacid Dehydrogenase Kinase) in consanguineous families with autism, epilepsy, and intellectual disability.

Gauging seizures’ severity

Submitted by Anonymous on April 30, 2012 - 07:43
Source: 
MITnews
Link: 
Gauging seizures’ severity
Date Published: 
April 30, 2012
Abstract: 

Simple wrist sensors let neurologists collect better data about patients with epilepsy — and could alert patients that they need to seek medical care.

Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways

Submitted by Anonymous on December 19, 2011 - 12:22
Source: 
Medical News Today
Link: 
Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways
Date Published: 
December 19, 2011
Abstract: 

About half of newborns who have seizures go on to have long-term intellectual and memory deficits and cognitive disorders such as autism, but why this occurs has been unknown. In the December 14 Journal of Neuroscience, researchers at Children's Hospital Boston detail how early-life seizures disrupt normal brain development, and show in a rat model that it might be possible to reverse this pathology by giving certain drugs soon after the seizure.

Fetal Exposure to Epilepsy Drug Might Raise Autism Risk: Study

Submitted by Anonymous on December 8, 2011 - 09:07
Source: 
US News & World Report
Link: 
Fetal Exposure to Epilepsy Drug Might Raise Autism Risk: Study
Date Published: 
December 5, 2011
Abstract: 

Children exposed to the epilepsy drug valproate have a nearly three times higher risk of having an autism spectrum disorder, new research finds.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Submitted by Anonymous on November 25, 2011 - 20:09
Source: 
Medical News Today
Link: 
Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result
Date Published: 
November 25, 2011
Abstract: 

In most cases, autism is caused by a combination of genetic factors, but some cases, such as Fragile X syndrome, can be traced to a variation in a single gene that causes overproduction of proteins in brain synapses. Now a new study led by the same MIT neuroscientist who made that discovery, finds that tuberous sclerosis is caused by a malfunction at the opposite end of the spectrum: underproduction of the synaptic proteins.

Treatment-resistant epilepsy common in idiopathic autism

Submitted by Anonymous on April 19, 2011 - 04:46
Source: 
Eurek Alert
Link: 
http://www.eurekalert.org/pub_releases/2011-04/w-tec041411.php
Date Published: 
April 19. 2011
Abstract: 

A new study found that treatment-resistant epilepsy (TRE) is common in idiopathic autism. Early age at the onset of seizures and delayed global development were associated with a higher frequency of resistance to antiepileptic drugs (AEDs). Full findings appear online in Epilepsia, a journal published by Wiley-Blackwell on behalf of the International League Against Epilepsy (ILAE).

Common Genetic Cause of Autism and Epilepsy Discovered

Submitted by Anonymous on April 8, 2011 - 04:50
Source: 
Science Daily
Link: 
http://www.sciencedaily.com/releases/2011/04/110408075031.htm
Date Published: 
April 8, 2011
Abstract: 

Led by the neurologist Dr. Patrick Cossette, the research team found a severe mutation of the synapsin gene (SYN1) in all members of a large French-Canadian family suffering from epilepsy, including individuals also suffering from autism.

Language Dysfunction in Children May Be Due to Epilectic Brain Activity

Submitted by Anonymous on April 23, 2010 - 10:14
Source: 
Science Daily
Link: 
http://www.sciencedaily.com/releases/2010/04/100419132357.htm?utm_source=feedburner&utm_medium=feed&utm_campaign=Feed:%20sciencedaily%20%28ScienceDaily:%20Latest%20Science%20News%29
Date Published: 
April 23, 2010
Abstract: 

Epileptic activity in the brain can affect language development in children, and EEG registrations should therefore be carried out more frequently on children with severe language impairment to identify more readily those who may need medical treatment, reveals a thesis from the Sahlgrenska Academy at the University of Gothenburg.

First Direct Recording Made of Mirror Neurons in Human Brain

Submitted by Anonymous on April 13, 2010 - 10:19
Source: 
Science Daily
Link: 
http://www.sciencedaily.com/releases/2010/04/100412162112.htm
Date Published: 
April 13, 2010
Abstract: 

Neuroscientists believe this "mirroring" is the mechanism by which we can "read" the minds of others and empathize with them. It's how we "feel" someone's pain, how we discern a grimace from a grin, a smirk from a smile. Problem was, there was no proof that mirror neurons existed -- only suspicion and indirect evidence. Dr. Itzhak Fried, a UCLA professor of neurosurgery and of psychiatry and biobehavioral sciences, Roy Mukamel, a postdoctoral fellow in Fried's lab, and their colleagues have for the first time made a direct recording of mirror neurons in the human brain.

It's suspected that dysfunction of these mirror cells might be involved in disorders such as autism, where the clinical signs can include difficulties with verbal and nonverbal communication, imitation and having empathy for others. So gaining a better understanding of the mirror neuron system might help devise strategies for treatment of this disorder.