Angelman syndrome: Brain cell activity imbalance may account for seizure susceptibility

Brain cell activity imbalance may account for seizure susceptibility in Angelman syndrome

CHAPEL HILL, N.C. – New research by scientists at the University of North Carolina School of Medicine may have pinpointed an underlying cause of the seizures that affect 90 percent of people with Angelman syndrome (AS), a neurodevelopmental disorder.

Published online Thursday June 7, 2012 in the journal Neuron, researchers led by Benjamin D. Philpot, PhD, professor of cell and molecular physiology at UNC, describe how seizures in individuals with AS could be linked to an imbalance in the activity of specific types of brain cells.

"Our study indicates that a common abnormality that may apply to many neurodevelopmental disorders is an imbalance between neuronal excitation and inhibition," Philpot said. This imbalance has been observed in several genetic disorders including Fragile X and Rett syndromes, both of these, like AS, can be associated with autism.

Autism, Epilepsy and Self-Injurious Behavior: Encouraging Parents of Children with Special Needs

Autism, Epilepsy and Self-Injurious Behavior: Encouraging Parents of Children with Special Needs

So, my message to all the parents out there, no matter what your child’s disability and no matter how it happened or what’s going on is you are NOT alone. And there is hope. Just as an athlete trains for years before they may win that gold medal, don’t give up. There WILL be victory. There WILL be a breakthrough. All hope is NOT lost. 

My friend confessed to me she had a “meltdown” in her car last month. She had to pull off the side of the road and scream. A man walking by thought she was nuts. I can assure you she is NOT nuts. She’s dealing with a situation so complex, so deep and so chronic that unless you stood by her day by day, you wouldn’t understand it. So please, if you see or know of a parent of a severely-disabled child who is angry, sad or lashing out, please don’t be afraid to help. Don’t shy away from delivering a kind word. Don’t think that they are crazy. Imagine the life they live. Have mercy.

FULL @ http://www.autismseizureselfinjuriousbehavior.com/2012/05/yesterday-i-ran-into-momi-know-who-has.html

Preventing Seizure Induced Autism (rapamycin)

Preventing autism after epilepsy - PR Newswire - The Sacramento Bee

Specifically, the study demonstrated that a group of signaling molecules, known collectively as the mTOR pathway, shows increased activation after a seizure. This increased signaling – above and beyond the surge that normally occurs early in life – disrupted the normal balance of synapse and circuit development to produce epilepsy and altered social behavior. Rapamycin treatment inhibited mTOR signaling, reducing susceptibility to seizures and preventing seizure-induced changes in the synapses. 

The study uncovers a new link whereby epilepsy and autism may interact in early development. Last December, Jensen and colleagues published a related study finding that seizures exaggerated excitation and synaptic strengthening too soon in a rat model, causing synapses to lose their plasticity -- their ability to reconfigure in response to input from the outside world. When they gave the rats a drug called NBQX, which blocks receptors associated with excitation, these problems were reversed. 

More @ http://www.sacbee.com/2012/05/02/4460761/preventing-autism-after-epilepsy.html