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Research by Topic: Epilepsy
Podcast: What is the real prevalence of ASD?
Published January 8, 2018This week’s ASF podcast takes a look at the prevalence rate of autism diagnoses. Two national datasets have shown no further increase in autism prevalence in the last few years of looking. Also, folic acid proves to show an effect on the probability of not just an autism diagnosis but also autism symptoms, especially important […]
Filed under: ADDM, anti epileptic drugs, Epilepsy, featured, folic acid, NHIS, podcast, pregnancy, Prevalence
A community response: Advocates embrace new SUDEP guidelines while urging for expanded surveillance, research and education
Published May 3, 2017To view the statement in its original form, click here. The release of new practice guidelines co-developed by the American Academy of Neurology (AAN) and the American Epilepsy Society (AES) on the issue of Sudden Unexpected Death in Epilepsy (SUDEP) is a benchmark moment for everyone impacted by epilepsy. Historically, the communication between medical professionals and […]
Filed under: Autism, Epilepsy, featured, SUDEP
Weekly Podcast: Another gene that causes autism and what families are doing about it
Published December 5, 2016A 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 […]
Filed under: Autism, Epilepsy, featured, seizures
Focal Seizures with Affective Symptoms are a Major Feature of PCDH19 Gene-Related Epilepsy.
Published December 8, 2015 in EpilepsiaMost 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
Filed under: Epilepsy, Genetics, Protein
Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits
Published August 21, 2014 in NeuronAs 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
Filed under: Autism News, Autism Research, Autism Science, Epilepsy, featured, Sensory Issues
Epilepsy Drug Alters Rodent Gut
Published February 14, 2014 in Simons Foundation Autism Research InitiativeIn 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.
Filed under: Autism News, Autism Research, Autism Science, Epilepsy, featured, Risk Factors
New Imaging Method Details Brain Abnormalities in Mice
Published November 14, 2013 in Simons Foundation Autism Research InitiativeA 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.
Filed under: Autism News, Autism Research, Autism Science, Brain Imaging, Epilepsy, featured
Autism and Epilepsy Cases Share Mutations
Published October 15, 2013 in Simons Foundation Autism Research InstituteAbout 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
Filed under: Autism News, Autism Research, Autism Science, Epilepsy, featured, Genetics, Mutations
Risk of Epilepsy Linked to Age and Intelligence
Published August 19, 2013 in Simons Foundation Autism Research InitiativeChildren 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
Filed under: Autism News, Autism Research, Autism Science, Epilepsy, featured
Mutations in BCKD-kinase Lead to a Potentially Treatable Form of Autism with Epilepsy
Published October 19, 2012 in ScienceA 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
Filed under: Autism News, Autism Research, Autism Science, Diet, Epilepsy, featured, IACC Top Papers, Treatments
Mutations in BCKD-kinase Lead to a Potentially Treatable form of Autism with Epilepsy.
Published October 19, 2012 in ScienceResearchers 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
Filed under: Autism Research, Epilepsy, Genetics, Treatments
Gauging seizures severity
Published April 30, 2012 in MITnewsSimple 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
Filed under: Epilepsy, featured, Screening, Service Delivery
Seizure Damage Reversed In Rats By Inhibitory Drug Targeting Neurologic Pathways
Published December 19, 2011 in Medical News TodayAbout 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
Filed under: Animal Models, Brain Development, Epilepsy, featured, Psychopharmacology, Synapse, Treatments
Fetal Exposure to Epilepsy Drug Might Raise Autism Risk: Study
Published December 5, 2011 in US News & World ReportChildren 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
Filed under: Diagnosis, Diagnostic Disparities, Epilepsy, featured, Mothers, Psychopharmacology
Another Genetic Clue To Autism: Opposite Malfunctions Have Same Result
Published November 25, 2011 in Medical News TodayIn 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
Filed under: Biomarkers, Epilepsy, featured, Fragile X, Genetics, Synapse, Tuberous Sclerosis
Treatment-resistant epilepsy common in idiopathic autism
Published April 19, 2011 in Eurek AlertA 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
Filed under: Epilepsy, Psychopharmacology, Treatments
Common Genetic Cause of Autism and Epilepsy Discovered
Published April 8, 2011 in Science DailyLed 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
Filed under: Brain Development, Epilepsy, Genetics, Synapse
Language Dysfunction in Children May Be Due to Epilectic Brain Activity
Published April 23, 2010 in Science DailyEpileptic 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.
Filed under: Epilepsy, Language, Speech
First Direct Recording Made of Mirror Neurons in Human Brain
Published April 13, 2010 in Science DailyNeuroscientists 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
Filed under: Brain Development, Brain Imaging, Epilepsy, Screening, Social Skills
Tuberous Sclerosis Complex Proteins Control Axon Formation
Published September 15, 2008 in Genes Development, Choi, DiNardo, et alAxon 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
Filed under: Animal Models, Brain Development, Epilepsy, Genetics, Tuberous Sclerosis
Reversal of Learning Deficits in a Ts2+/- Mouse Model of Tuberous Sclerosis
Published August 31, 2008 in Nature Medicine, Ehninger, Han, et alTuberous 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
Filed under: Animal Models, Behavior, Brain Development, Epilepsy, Synapse, Treatments, Tuberous Sclerosis
Mortality and Causes of Death in Autism Spectrum Disorders: An Update
Published July 31, 2008 in Autism, Mouridsen, Bronnum-Hansen, et alThis 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
Filed under: Adults, Epilepsy, Gender, Screening, Service Delivery