Encephalopathy News and Research

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Comprehensive study maps genetic mutations in SLC13A5 linked to epilepsy

Citrate is essential for the metabolism and development of neurons. A membrane transport protein called SLC13A5 plays a central role in this process and has previously been linked to a particularly severe form of epileptic encephalopathy.

30 Jun 2025

Personalized gene editing corrects fatal infant metabolic disorder in world-first treatment

Researchers have used a personalised base-editing gene therapy to successfully treat an infant with carbamoyl-phosphate synthetase 1 (CPS1) deficiency, a rare and life-threatening inborn error of metabolism. This pioneering approach chemically corrects the underlying mutation without cutting DNA, showing promise for precision treatment of ultrarare genetic disorders.

20 May 2025

New model reveals H5N1 is spreading undetected in US dairy herds

Researchers developed a nationwide model to simulate the spread of H5N1 in US dairy cattle, revealing significant under-reporting and predicting continued outbreaks into 2025. Targeted farm-level biosecurity and surveillance are urgently needed to contain the epidemic.

11 May 2025

St. Jude Children's scientists use brain organoids to study rare encephalopathy

While extremely rare, encephalopathy (a condition affecting brain function) triggered by mutations in the UBA5 gene has devastating impacts, with affected individuals reaching few developmental milestones and experiencing frequent and early-onset seizures.

8 May 2025

New gene editing tool enables precise control of mitochondrial mutation load

Mitochondrial diseases affect approximately 1 in 5,000 people worldwide, causing debilitating symptoms ranging from muscle weakness to stroke-like episodes.

3 May 2025

Synthetic tau protein reveals key insights into protein misfolding and fibril formation

Scientists at Northwestern University and University of California, Santa Barbara have created the first synthetic fragment of tau protein that acts like a prion.

29 Apr 2025

Perspective shows Brexit exposed vulnerabilities in the UK’s food system

A new perspective article in Foods analyzes how Brexit disrupted the UK's food standards, security, and agricultural policy. The authors argue that emerging neoliberal frameworks like neo-developmentalism and eco-extractivism are reshaping the UK’s food system and national resilience.

27 Apr 2025

Erythropoietin fails to improve outcomes for newborns with hypoxic-ischemic encephalopathy

Erythropoietin, a treatment for newborns with critically low levels of oxygen or blood supply to the brain at birth, does not prevent death or disability, according to a new multinational study.

25 Apr 2025

Pregnancy may provide some protection against Long COVID

Pregnancy may offer some protection from developing Long COVID, found a new study led by Weill Cornell Medicine, University of Rochester Medical Center, University of Utah Health and Louisiana Public Health Institute.

1 Apr 2025

Smell-based test taken at home could predict cognitive impairment in older adults

When it comes to early detection of cognitive impairment, a new study suggests that the nose knows. Researchers from Mass General Brigham developed olfactory tests-in which participants sniff odor labels that have been placed on a card-to assess people's ability to discriminate, identify and remember odors.

24 Mar 2025

New video-based method enhances detection of infantile spasms syndrome

Shenyang Institute of Computing Technology, CAS and Chinese PLA General Hospital Joint Team conduct series of investigations on Infantile Spasms Syndrome (IESS), also known as West syndrome, discovering a video-based epileptic seizure detection method that effectively enhances the accuracy of infantile spasm identification.

21 Mar 2025

Cooling treatment shows no benefits for preterm infants with hypoxic ischemic encephalopathy

Lowering the body temperature of preterm infants (born at 33 to 35 weeks of pregnancy) with hypoxic ischemic encephalopathy (HIE)-a type of brain damage caused by oxygen loss-offers no benefits over standard care, according to a study funded by the National Institutes of Health (NIH).

25 Feb 2025

Gene therapy shows promise in treating SCN1B-linked epileptic encephalopathies

Dravet syndrome and other developmental epileptic encephalopathies are rare but devastating conditions that cause a host of symptoms in children, including seizures, intellectual disability, and even sudden death.

14 Feb 2025

Researchers identify genetic cause of Lennox-Gastaut syndrome

Researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute (Duncan NRI) at Texas Children's Hospital, Baylor Genetics and collaborating institutions provided a long-awaited and rare genetic diagnosis in a child with Lennox-Gastaut syndrome, a type of developmental epileptic encephalopathy (DEE), associated with a severe, complex form of epilepsy and developmental delay.

14 Feb 2025

Flu-related neurologic events pose greater risk for children with pre-existing neurologic conditions

Many clinicians do not consider neurologic complications of the flu when discussing vaccination or treatment of influenza with families.

13 Feb 2025

New diagnostic guidelines aim to distinguish common memory disorder from Alzheimer’s

LATE-NC diagnostic criteria improve differentiation from Alzheimer's, addressing challenges in memory-loss syndromes and guiding therapeutic interventions.

28 Jan 2025

Diagnostic guidelines released for limbic-predominant age-related TDP-43 encephalopathy

New guidelines will help doctors identify patients with a common memory-loss syndrome that is often misdiagnosed as Alzheimer's disease in older adults.

22 Jan 2025

Evaluating biomarkers for diagnosing minimal hepatic encephalopathy in cirrhotic patients

The performance of neurodegenerative biomarkers-neurofilament light chain (NfL), glial fibrillary acidic protein (GFAP), tau, and ubiquitin carboxy-terminal hydrolase L1 (UCHL1)-in diagnosing minimal hepatic encephalopathy (MHE) has not been systematically evaluated, simultaneously, nor have their associations with the development of overt hepatic encephalopathy (OHE).

17 Jan 2025

Concussions may trigger Alzheimer's symptoms through latent viruses

Concussions and repetitive head trauma in sports like football and boxing, once accepted as an unpleasant consequence of intense athletic competition, are now recognized as serious health threats.

7 Jan 2025

Chronic traumatic encephalopathy risk in ice hockey increases with each year played

A study of 77 male hockey players reveals a 96.4% CTE prevalence, highlighting the link between play duration and increased risk of chronic encephalopathy.

6 Dec 2024