Publications by authors named "G S Pitt"
Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological disorders characterized by recurrent seizures and exacerbated by disruptions to excitatory/inhibitory balance in the brain, are commonly caused by mutations in ion channels. Disruption of, or variants in, were implicated as causal for a set of DEEs, but the underlying mechanisms were clouded because is expressed in both excitatory and inhibitory neurons, undergoes extensive alternative splicing producing multiple isoforms with distinct functions, and the overall roles of FGF13 in neurons are incompletely cataloged. To overcome these challenges, we generated a set of novel cell-type-specific conditional knockout mice.
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- - Timothy syndrome, caused by variants in the CACNA1C gene, was originally recognized for its cardiac symptoms (long QT syndrome) and physical abnormalities (syndactyly), but more recent research has unveiled a wider range of symptoms associated with different CACNA1C variants.
- - A survey was conducted with parents of Timothy syndrome patients to gather information on various symptoms, grouping participants by genetic type and initial diagnosis to compare their conditions.
- - The study found that patients commonly show both cardiac and extra-cardiac symptoms, such as neurodevelopmental issues and respiratory problems, regardless of their classification, indicating that the current understanding of "non-syndromic" cases may not fully capture the complexity of the disease.
Article Synopsis
- * Researchers created a G406R knockin mouse model that exhibits TS features, including hypoglycemia, but surprisingly does not show increased beta cell activity or hyperinsulinism.
- * The study unveils alternative mechanisms for hypoglycemia, such as impaired hormone responses and disrupted hypothalamic regulation of glucose levels, enhancing our understanding of how mutant channels impact TS.
Article Synopsis
- Sudden Unexpected Death in Epilepsy (SUDEP) is a major concern for people with epilepsy, primarily linked to recurrent convulsive seizures.
- Current research suggests that respiratory dysfunction is a key factor leading to SUDEP, rather than heart rhythm problems.
- Continued studies aim to uncover predictive markers for SUDEP and develop targeted treatments to improve the lives and longevity of individuals with epilepsy.
Healthcare associated infections (HCAI) represent a significant burden worldwide contributing to morbidity and mortality and result in substantial economic consequences equating to billions annually. Although the impacts of HCAI have been felt for many years, the coronavirus pandemic has had a profound effect, escalating rates of HCAI, even with extensive preventative measures such as vaccination, personal protective equipment, and deep cleaning regimes. Therefore, there is an urgent need for new solutions to mitigate this serious health emergency.
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