Articles tagged with Epilepsy
Dr. Vikaas Sohal's research focuses on cognitive flexibility and prefrontal gamma oscillations to improve cognitive function in individuals with SYNGAP1-related disorders. The grant aims to confirm findings in Syngap1 mutant mice and explore new therapeutic strategies.
Researchers at UW–Madison have discovered that the arthritis drug tofacitinib can halt brain-damaging seizures in mice, restore short-term memory, and reduce inflammation. The drug has shown promising results in preventing seizures even after treatment is stopped, offering a potential new approach for treating epilepsy.
A team of researchers has identified a common brain network that generalized seizures hijack, which is located in the region where deep brain stimulation (DBS) electrodes are placed. This finding could help explain why DBS is effective in alleviating generalized seizures and potentially improve treatment outcomes.
A new study from the University of Colorado Anschutz Medical Campus identified significant mitochondrial dysfunction in lymphoblast cell lines from children with Dravet syndrome, a severe form of epilepsy. The findings suggest that mitochondrial defects play a role in the metabolic dysfunction observed in Dravet syndrome.
A study published by Tohoku University reveals that epileptic seizures can significantly reduce ATP levels in neurons, while increasing pyruvate levels in astrocytes. This finding challenges the traditional view of brain energy dynamics and suggests a more complex interplay between neuronal activity and metabolic processes.
A new method detects epileptic seizures in infants using a video-based approach, enhancing accuracy for diagnosis and disease management. The technique involves feature recognition and utilizes an optimized 3D-ResNet architecture to extract key features from video frames.
A new MRI technique has been successfully used to treat adults with drug-resistant epilepsy, allowing doctors to offer life-changing surgery to patients. The parallel transmit 7T scanner identified previously unseen structural lesions in nine patients, confirming the effectiveness of the treatment option.
Scientists have developed a new gene replacement therapy in mice that alleviated symptoms without side effects, offering long-term recovery for patients. The therapy targets the SCN1A gene, which plays a crucial role in regulating brain activity, and shows promising results in treating Dravet syndrome.
Scientists at the University of South Australia have developed a phospholipid complex to improve cannabidiol's effectiveness in treating epilepsy, multiple sclerosis, and other neurodegenerative diseases. The new formula increases cannabidiol's solubility by up to six times and improves its absorption in the gastrointestinal tract.
Researchers at UCL identified key brain regions involved in remembering words, finding shrinkage in the front and side of the brain linked to difficulty recalling words. Detailed MRI scans showed a dispersion network for creating and storing word memories, crucial for understanding epilepsy conditions.
Dr. Julia Dallman has been awarded a $65,000 grant by the SynGAP Research Fund to screen pro-GI motility compounds for reducing gut transit time in her zebrafish SYNGAP1 model. The project aims to identify therapeutic options that can alleviate severe GI symptoms and improve quality of life for individuals with SYNGAP1-related disorders.
Researchers at Baylor College of Medicine have identified new variants of CDKL2 and CDKL1 genes associated with developmental disorders, including epilepsy. The study proposes a mechanism by which defective variants cause neurological symptoms in affected individuals.
The American Academy of Neurology, American Epilepsy Society, and Epilepsy Foundation of America have issued a consensus position statement on seizures and driving safety. The statement recommends that medical advisory boards conduct individualized risk assessments for people with seizures before allowing them to drive.
A new Clinical Research Center of Excellence will improve care for individuals with SYNGAP1-related disorders and expand the Natural History Study to include Prospective Multidisciplinary Multisite Study. The center, established at Children's Hospital Colorado, aims to accelerate research and provide specialized care.
A new study reports that Raman spectroscopy, a noninvasive technique, can distinguish between abnormal FCD type II tissue and healthy brain cells with remarkable accuracy. This method could provide real-time guidance for surgeons to more accurately identify and remove affected tissue during surgery.
A genomics blood test has improved diagnosis and treatment plans for children with rare diseases, including epilepsy. The test provides genetic diagnoses for 43% of children in under three weeks, leading to significant impacts on treatment.
Researchers at Weill Cornell Medicine have discovered a precise mechanism by which an ion channel regulates its function, providing insights into fundamental biology and potential new treatments for diseases. The study identified a 'ball-and-chain' structure that plugs the channel, opening the way to modulate ion channel activity.
A Northwestern University study discovered a region of the brain processes subtle changes in voice pitch, transforming them into meaningful linguistic information that guides human understanding. The findings challenge long-held assumptions about speech perception and have implications for speech rehabilitation, AI-powered voice assist...
Researchers developed an AI approach to identify genes contributing to neurodevelopmental disorders like autism spectrum disorder, epilepsy, and developmental delay. The tool enhances gene discovery by predicting additional genes involved in these conditions.
Researchers at Tel Aviv University have developed a novel method to measure PTEN gene activity, which is associated with cancer and autism. This breakthrough may lead to personalized therapeutics and earlier disease detection.
A new AI-powered tool, MELD Graph, has been developed to detect subtle brain abnormalities in children with epilepsy. The tool improves detection rates by 64% compared to human radiologists, reducing delays in diagnosis and treatment. This could lead to faster surgical interventions, improved outcomes, and reduced costs for the NHS.
A recent MSU study highlights the challenges of diagnosing episodic disabilities like epilepsy, where symptoms fluctuate and can be unpredictable. The research found that 52% of participants experienced delayed diagnoses, while others faced quick confirmations within days of their first seizure.
A nationwide Danish study found that newborns with seizures are at a higher risk of developing epilepsy. The study analyzed data from over 1.3 million children and found that 20.4% of those with neonatal seizures developed epilepsy, compared to 1.15% of those without.
A comprehensive review published in Brain Medicine maps out the extensive influence of reproductive hormones on neurological health and disease. The study examines how sex hormones affect a broad spectrum of neurological conditions, including vascular disorders, movement disorders, epilepsy, multiple sclerosis, and Alzheimer's disease.
A study by researchers at the University of Kentucky has found that plant immune responses and human neurological health share common biochemical pathways. This discovery highlights the importance of plant-based diets for essential vitamins and amino acids, and suggests a link between disruptions in amino acid metabolism and human health.
A new gene therapy has shown promise in treating a rare form of epilepsy, specifically Dravet syndrome, by replacing the SCN1B gene variant. The therapy increased survival rates, reduced seizure severity, and restored brain neuron excitability in mice with the condition.
Researchers identified specific non-frontal brain areas involved in speech intent, which can be used to distinguish between language production and perception. This study is a crucial step towards developing a brain-computer interface to treat patients with Broca's aphasia.
Researchers have identified changes in brain rhythms that indicate seizure activity in Alzheimer's patients. High-frequency oscillations (HFOs) occur at rates two to three times higher in Alzheimer's patients than in cognitively normal individuals.
Researchers at Baylor College of Medicine have identified a rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a severe form of epilepsy and developmental delay. The study reports a highly complex rearrangement of chromosomes 3 and 5, leading to a rare condition known as 5q14.3 microdeletion syndrome.
The Syngap Research Fund's 2024 Impact Report showcases the organization's progress in accelerating SYNGAP1 research, collaborating with academia and industry, and advocating for patients' rights. The report highlights seven core scientific programs and over $6M in funding for SYNGAP1-related disorders science.
Researchers used single-cell sequencing to characterize different cell types in brain lesions and identify subpopulations involved in disease progression. The study provides a cellular view of focal cortical dysplasia, a malformation leading to drug-resistant epilepsy.
A new international study has identified the P2X7 receptor as a promising target for preventing post-traumatic epilepsy. The study suggests that blocking this receptor shortly after traumatic brain injury can significantly reduce brain hyperexcitability and improve behavior.
A new tool called EpiScalp uses algorithms trained on dynamic network models to map brainwave patterns and identify hidden signs of epilepsy from a single routine EEG. This tool has ruled out 96% of false positives, cutting potential misdiagnoses among cases by nearly 70%, according to a Johns Hopkins University study.
Researchers have created a detailed structural map of GABA A receptors in the human brain, revealing how they assemble and interact with drugs. The study provides new insights into treating epilepsy, anxiety, depression, and insomnia, and paves the way for customized therapies.
Researchers found that individuals with childhood epilepsy have an increased accumulation of brain amyloid later in life, which may lead to late-onset brain amyloid disorders like Alzheimer's disease. The study also showed that these individuals performed worse in cognitive tests compared to controls.
Researchers link neuropilin2 gene to autism and seizure development, highlighting its role in regulating neural circuits. The study suggests targeting specific phases of neuronal development could lead to therapeutic interventions for individuals with autism.
Researchers at UTHealth Houston have discovered two novel genes, DYRK1A and EGFR, linked to genetic mutations causing epileptic brain lesions. This breakthrough offers a new framework for understanding epilepsy and developing targeted therapies.
A new study finds that women with gestational hypertension and preeclampsia are at increased risk of developing new-onset migraine, headache, epilepsy, sleep disorder, or mental fatigue after giving birth. Follow-up care is recommended for these high-risk patients to monitor for neurological symptoms.
Dr. Michael Courtney's team will use advanced phenotyping techniques to assess how SYNGAP1 missense variants impact protein function, focusing on pathogenic or uncertain variants. The project aims to inform therapeutic strategies for patients with SYNGAP1-related disorders through drug repurposing and functional assays.
A new study by Northwestern University researchers found that breathing rhythms coordinate hippocampal brain waves during sleep, strengthening memory consolidation. This synchronization is critical for proper memory formation and retrieval, with implications for treating disordered breathing during sleep, such as sleep apnea.
Researchers identified the critical role of TIMM50 protein in mitochondrial energy production and its link to a severe and rare neurological disease. The study's findings suggest potential targets for future drug treatments and advance research on protein import into mitochondria in brain cells.
A USC-led study found that neurogenesis in adults supports verbal learning and memory, enabling people to have conversations. The discovery could lead to new approaches to restore cognitive function in patients with epilepsy and other conditions.
The Jackson Laboratory (JAX) has been awarded a $230,000 grant from the SynGAP Research Fund to characterize a mouse model for SYNGAP1-Related Disorders. This work aims to test innovative tRNA suppressor therapies and generate patient-derived research models.
A large multisite study found that two common antiseizure medications, lamotrigine and levetiracetam, are safe to use during pregnancy, with no statistically significant differences in cognitive and psychosocial outcomes at age 6. The study confirms these drugs offer a safe alternative to older antiseizure medications like valproate.
SynGAP Research Fund appoints Virginie McNamar as President and COO, bringing extensive Rare Disease advocacy experience. The organization aims to accelerate progress with robust organizational structure and strategic focus.
A study funded by NIH found no association between antiseizure drugs used during pregnancy and neurodevelopmental problems in children at age 6. Higher folate doses during the first 12 weeks of pregnancy were associated with better cognitive outcomes.
Researchers developed MoPEDE, a method combining genetic data and brain activity to pinpoint epileptic seizure origins. This approach offers deeper insights into epilepsy mechanisms, potentially leading to personalized treatments.
A new approach profiles gene activity in the living brain, providing insights into neurological conditions like epilepsy. The study enhances understanding of seizure networks, potentially improving surgical interventions.
Scientists have successfully used optogenetics to control seizure activity in living human brain tissue, opening doors to new treatments for epilepsy and other neurological diseases. By switching off specific neurons with light pulses, researchers can prevent seizures from occurring, providing a less invasive alternative to surgery.
A Japanese study of over 97,000 1-3-year-olds found a possible link between maternal prenatal psychological distress and increased epilepsy diagnosis rates in their offspring. The research suggests that continuous stress during pregnancy may be a contributing factor to the development of epilepsy in young children.
Researchers have developed a practical calculator to predict the risk of developing epilepsy after cerebral venous thrombosis, a rare cause of stroke. The tool is based on factors already available in clinical routine and can help inform treatment decisions or support preventive medication for those at high risk.
The Finnish epilepsy care pathway provides a comprehensive, integrated approach to diagnosing and treating complex conditions. The model combines modern digital tools, data sharing, and peer support to ensure consistent, effective care regardless of socioeconomic status.
A team of researchers has identified 30 patients with previously undiagnosed conditions, linking them to rare mutations in the FLVCR1 gene. The study reveals a range of severe developmental disorders, including anemia and bone malformations, which share similarities with mice lacking the Flvcr1 gene and Diamond-Blackfan anemia.
The SynGAP Research Fund has awarded grants to Dr. Clement Chow to advance therapeutic development for SYNGAP1-Related Disorders. His research uses drug repurposing to identify compounds like N-acetyl-L-leucine as potential treatments.
Scientists have discovered a long non-coding RNA called CHASERR that regulates the production of the CHD2 gene, which is associated with neurodevelopmental disorders. The study found that patients with a deletion of this RNA had excessive CHD2 protein production, leading to severe intellectual delays and other symptoms.
Researchers have developed a novel gene therapy approach that targets and breaks down faulty ribonucleic acids in the KCNA2 gene, which is associated with recurring seizures. The therapy has shown promise in reducing excessive neuron activity linked to epilepsy.
A new scoring system helps doctors predict which patients will likely become seizure-free after minimally invasive epilepsy surgery. The model is based on eight clinical factors and has been shown to outperform other predictive models in predicting seizure freedom.
Researchers have developed a lab-grown spine model that can test the effects of valproic acid on fetal development. The study found that co-treatment with Rapamycin can prevent the negative effects of valproic acid, enabling women to take life-saving medication while having healthy children.
Researchers have uncovered a shared genetic basis for bipolar disorder type I and epilepsy, identifying 1,300 genetic variants influencing both conditions. The study suggests that mood stabilizers may be effective in treating both illnesses, and could lead to personalized medicine approaches.
Researchers identify a homozygous SPAG9 gene mutation associated with intellectual disability, progressive cognitive decline, and heterogeneous brain abnormalities. The study provides a unique model for understanding disruptions in cellular transport mechanisms leading to neurodevelopmental and degenerative brain conditions.