Research by Topic: Epilepsy

Weekly Podcast: Another gene that causes autism and what families are doing about it

Published December 5, 2016

A gene that controls electrical activity in the brain, SCN2A, has been linked to autism for awhile. But recently, a new study from China shows that mutations of this gene are seen in about 1% of people with autism. This may put it into the category of the rare mutations that have a major contribution […]

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Focal Seizures with Affective Symptoms are a Major Feature of PCDH19 Gene-Related Epilepsy.

Published December 8, 2015 in Epilepsia

Most patients with PCDH19 mutations exhibit a distinctive electroclinical pattern of focal seizures with affective symptoms, suggesting an epileptogenic dysfunction involving the frontotemporal limbic system. Awareness of this distinctive phenotype will likely enhance recognition of this disorder.

http://www.ncbi.nlm.nih.gov/pubmed/22946748

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Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits

Published August 21, 2014 in Neuron

As a babys brain develops, there is an explosion of synapses, the connections that allow neurons to send and receive signals. But during childhood and adolescence, the brain needs to start pruning those synapses, limiting their number so different brain areas can develop specific functions and are not overloaded with stimuli.Now a new study suggests that in children with autism, something in the process goes awry, leaving an oversupply of synapses in at least some parts of the brain.

http://www.cell.com/neuron/abstract/S0896-6273(14)00651-5

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Epilepsy Drug Alters Rodent Gut

Published February 14, 2014 in Simons Foundation Autism Research Initiative

In utero exposure to the epilepsy drug valproic acid (VPA), which ups the risk of autism, may alter the composition of gut bacteria in rodents, according a study published in Brain Behavior and Immunity. Rats and mice exposed to VPA in utero have social deficits, repetitive behaviors and anxiety, making them a good model for studying autism. It is unclear exactly how VPA exposure leads to these symptoms, however.

http://sfari.org/news-and-opinion/in-brief/2014/cognition-and-behavior-epilepsy-drug-alters-rodent-gut

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New Imaging Method Details Brain Abnormalities in Mice

Published November 14, 2013 in Simons Foundation Autism Research Initiative

A new imaging technique that can assemble finely detailed pictures of an individual mouses brain in less than a day is being used to explore mouse models of autism. The automated technique cuts a mouse brain into 280 thin slices, which are scanned by a powerful microscope and the resulting images are then stitched together into a three-dimensional view. The researchers used this technique to investigate the imbalance of excitatory and inhibitory signals in a mouse model of 16p11.2 deletion. People missing this chromosomal region have an increased risk for autism, and about one-quarter have epilepsy, in which an excess of excitatory signals causes seizures.

http://sfari.org/news-and-opinion/conference-news/2013/society-for-neuroscience-2013/new-imaging-method-details-brain-abnormalities-in-mice

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Autism and Epilepsy Cases Share Mutations

Published October 15, 2013 in Simons Foundation Autism Research Institute

About one-third of people with autism suffer from epilepsy. This overlap suggests that the two disorders may have a common origin a theory borne out by examples of shared genetics. Mutations in GABRB3, a brain receptor linked to autism, are prevalent in severe childhood epilepsy, according to a study published in Nature. The study also found that many of the spontaneous mutations found in children with epilepsy overlap with those linked to autism and fragile X syndrome.

http://sfari.org/news-and-opinion/in-brief/2013/genetics-autism-epilepsy-cases-share-mutations

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Risk of Epilepsy Linked to Age and Intelligence

Published August 19, 2013 in Simons Foundation Autism Research Initiative

Children with autism who are older than 13 years and have low intelligence are at the greatest risk of having epilepsy, says one of the largest epidemiological studies on the issue to date. The presence of epilepsy among the general population is around two percent; the prevalence of epilepsy among people with autism is around thirty percent. This study breaks down occurrence of epilepsy by age, with children ages 13 to 17 having the highest prevalence.

http://sfari.org/news-and-opinion/news/2013/risk-of-epilepsy-in-autism-tied-to-age-intelligence

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

Published October 19, 2012 in Science

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.

http://www.ncbi.nlm.nih.gov/pubmed/22956686

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

Published October 19, 2012 in Science

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

http://www.ncbi.nlm.nih.gov/pubmed/22956686

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Gauging seizures severity

Published April 30, 2012 in MITnews

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

http://web.mit.edu/newsoffice/2012/seizure-wrist-sensor-0427.html#.T53hCS6KdVA.gmail

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Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways

Published December 19, 2011 in Medical News Today

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.

Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways

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Fetal Exposure to Epilepsy Drug Might Raise Autism Risk: Study

Published December 5, 2011 in US News & World Report

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

Fetal Exposure to Epilepsy Drug Might Raise Autism Risk: Study

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Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

Published November 25, 2011 in Medical News Today

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.

Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result

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Treatment-resistant epilepsy common in idiopathic autism

Published April 19, 2011 in Eurek Alert

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).

http://www.eurekalert.org/pub_releases/2011-04/w-tec041411.php

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Common Genetic Cause of Autism and Epilepsy Discovered

Published April 8, 2011 in Science Daily

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.

http://www.sciencedaily.com/releases/2011/04/110408075031.htm

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Language Dysfunction in Children May Be Due to Epilectic Brain Activity

Published April 23, 2010 in Science Daily

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.

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

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First Direct Recording Made of Mirror Neurons in Human Brain

Published April 13, 2010 in Science Daily

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.

http://www.sciencedaily.com/releases/2010/04/100412162112.htm

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Tuberous Sclerosis Complex Proteins Control Axon Formation

Published December 31, 1969 in Genes Development, Choi, DiNardo, et al

Axon formation is fundamental for brain development and function. TSC1 and TSC2 are two genes, mutations in which cause tuberous sclerosis complex (TSC), a disease characterized by tumor predisposition and neurological abnormalities including epilepsy, mental retardation, and autism. Here we show that Tsc1 and Tsc2 have critical functions in mammalian axon formation and growth. Overexpression […]

http://www.ncbi.nlm.nih.gov/pubmed/18794346

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Reversal of Learning Deficits in a Ts2+/- Mouse Model of Tuberous Sclerosis

Published December 31, 1969 in Nature Medicine, Ehninger, Han, et al

Tuberous sclerosis is a single-gene disorder caused by heterozygous mutations in the TSC1 (9q34) or TSC2 (16p13.3) gene and is frequently associated with mental retardation, autism and epilepsy. Even individuals with tuberous sclerosis and a normal intelligence quotient (approximately 50%) are commonly affected with specific neuropsychological problems, including long-term and working memory deficits. Here we […]

http://www.ncbi.nlm.nih.gov/pubmed/18568033

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Mortality and Causes of Death in Autism Spectrum Disorders: An Update

Published December 31, 1969 in Autism, Mouridsen, Bronnum-Hansen, et al

This study compared mortality among Danish citizens with autism spectrum disorders (ASDs) with that of the general population. A clinical cohort of 341 Danish individuals with variants of ASD, previously followed over the period 1960-93, now on average 43 years of age, were updated with respect to mortality and causes of death. Standardized mortality ratios […]

http://www.ncbi.nlm.nih.gov/pubmed/18579647

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