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One gene provides diagnoses for 30 patients whose condition was unexplained for years

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.

SourceBaylor College of Medicine·JournalGenetics in Medicine·TypeData/statistical analysis·DateNov 8, 2024

New model identifies best candidates for epilepsy surgery

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.

SourceRutgers University·JournalAnnals of Clinical and Translational Neurology·TypeObservational study·DateOct 8, 2024

Cutting-edge algorithm improves intracranial EEG accuracy to improve future patient care

A new algorithm has been developed to improve the accuracy of intracranial EEG data, which is critical for diagnosing and treating epilepsy. The Automated Bad Channel Detection (ABCD) algorithm demonstrated higher accuracy than human raters, particularly in identifying channels with high-frequency noise.

SourceUniversity of Minnesota Medical School·JournalJournal of Neural Engineering·TypeObservational study·DateAug 27, 2024

SNU researchers develop biodegradable electronic tent for non-surgical brain disease diagnosis using a needle

Seoul National University researchers developed a biodegradable electronic tent technology that enables non-invasive brain disease diagnosis using a needle. The device unfolds to cover the entire brain over a large area and naturally decomposes in the body after diagnosis, minimizing side effects.

SourceSeoul National University College of Engineering·JournalNature Electronics·TypeExperimental study·DateAug 11, 2024

Genetic ‘episignatures’ guide researchers in identifying causes of unsolved epileptic neurological disorders

Researchers at St. Jude Children's Research Hospital have discovered DNA methylation patterns that help identify the root cause of developmental and epileptic encephalopathies, a condition affecting 1 in 590 children. The findings provide a new tool for diagnosing children with DEE and could lead to more effective treatments.

SourceSt. Jude Children's Research Hospital·JournalNature Communications·DateAug 6, 2024

A new use for propofol in treating epilepsy?

A study published in Nature found that propofol can restore the function of mutated HCN1 ion channels, which are associated with certain types of epilepsy. The researchers suggest using propofol to treat these conditions or designing new compounds with similar effects but reduced side effects.

SourceWeill Cornell Medicine·JournalNature·DateJul 31, 2024

Slipping a note to a neighbor: The cellular way

Researchers from PSI and ETH Zurich studied connexin-36 gap junction channels and found that antimalarial drug mefloquine binds to the channels, potentially explaining its severe side effects. The study provides new insights into how drugs interact with connexins and may lead to the development of therapies for neurological diseases.

SourcePaul Scherrer Institute·JournalCell Discovery·TypeExperimental study·DateJun 26, 2024

Neuroscience research leverages stem cells to understand how neurons connect and communicate in the brain

Researchers at Colorado State University used human stem cells to study synaptic connections in the brain, focusing on GABAergic synapses. They found that Gephyrin promotes autonomous assembly of these synapses, which can develop independently of neuronal communication. This understanding could lead to new treatments for neurological d...

SourceColorado State University·JournalProceedings of the National Academy of Sciences·DateJun 26, 2024

Super-chilled brain cell molecules reveal how epilepsy drug works

Scientists at Johns Hopkins Medicine have discovered the mechanism of action of the widely-used epilepsy drug perampanel, which targets the AMPA receptor to dampen brain cell excitability. The study provides new insights into the potential applications of perampanel in treating other neurological conditions such as Alzheimer’s disease,...

SourceJohns Hopkins Medicine·JournalNature Structural & Molecular Biology·DateJun 10, 2024

Climate change likely to aggravate brain conditions

A UCL-led team of researchers warn that climate change will aggravate brain conditions such as stroke, migraine, and dementia. The study, which reviewed 332 papers, found that extreme temperatures and weather events can disrupt sleep, exacerbate cognitive impairment, and lead to increased hospital admissions and mortality.

SourceUniversity College London·JournalThe Lancet Neurology·TypeCommentary/editorial·DateMay 15, 2024

Assessing knowledge and first-aid practice scores of caregivers of epilepsy patients before and after an educational program in the kingdom of Saudi Arabia

A recent study in Saudi Arabia assessed the effectiveness of an educational program improving epilepsy care among caregivers. The intervention showed a significant decrease in knowledge gaps, with 23.2% having sufficient knowledge post-intervention compared to 60% before.

SourceBentham Science Publishers·JournalThe Open Public Health Journal·DateMay 6, 2024

From autism to Alzheimer’s: A large-scale animal study links brain pH changes to wide-ranging cognitive issues

A large-scale animal study reveals that brain pH and lactate levels are a common feature across various neuropsychiatric conditions, including schizophrenia, bipolar disorder, autism, depression, epilepsy, and Alzheimer's disease. Changes in brain energy metabolism are linked to cognitive impairment, particularly working memory.

SourceFujita Health University·JournaleLife·TypeData/statistical analysis·DateMar 26, 2024

Early intervention after the first seizure may prevent long-term epilepsy and associated cognitive deficits

Researchers discovered that only a small percentage of neurons are activated in epileptic brains, which can lead to permanent changes and impaired cognition. Early intervention with an experimental treatment within 48 hours after the first seizure may prevent these long-term changes.

SourceUniversity of Pennsylvania School of Medicine·JournalJournal of Clinical Investigation·TypeRandomized controlled/clinical trial·DateMar 22, 2024

Prenatal exposure to antiseizure medication topiramate may not increase children’s risk of autism spectrum disorder

A new study from Harvard T.H. Chan School of Public Health finds that prenatal exposure to antiseizure medication topiramate does not increase the risk of autism spectrum disorder (ASD) among children. In contrast, valproate has been linked to a heightened risk of ASD.

SourceHarvard T.H. Chan School of Public Health·JournalNew England Journal of Medicine·TypeObservational study·DateMar 20, 2024

Study reveals key mechanisms of rare form of epilepsy

A study identifies a genetic mutation underlying KCNQ2 encephalopathy, a rare and devastating form of epilepsy. The research reveals key mechanisms by which the disorder manifests in patients, including suppression of normal gene function and altered protein distribution.

SourceeLife·JournaleLife·DateMar 12, 2024

New treatment could transform the mental health of children with epilepsy

A new treatment has been shown to reduce mental health difficulties in children with epilepsy compared to standard care. The Mental Health Intervention for Children with Epilepsy (MICE) treatment uses a modular approach to treat multiple conditions simultaneously, reducing the likelihood of psychiatric disorders by 40%.

SourceUniversity College London·JournalThe Lancet·TypeRandomized controlled/clinical trial·DateMar 7, 2024