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Last Posted: Dec 02, 2022
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5 Things You Should Know About Epilepsy
CDC, November 2022 Brand

Here’s what you need to know: Epilepsy is common. Seizures may look different than you expect. Seizure first aid is easy to give. People with epilepsy can lead full lives. Epilepsy can be caused by different conditions that affect a person’s brain. Many times, doctors don’t know the cause. Epilepsy can be caused by different conditions that affect a person’s brain. Some known causes include: Stroke. Brain tumor. Brain infection, Traumatic brain injury or head injury. Loss of oxygen to the brain (for example, during birth) and some genetic disorders.

Association of Vascular Risk Factors and Genetic Factors With Penetrance of Variants Causing Monogenic Stroke.
Cho Bernard P H et al. JAMA neurology 2022 10

What factors are associated with penetrance of variants in monogenic cerebral small vessel disease (cSVD)? In this population-based cohort study of 454?756 individuals, NOTCH3, HTRA1, and COL4A1/2 variants causing monogenic cSVD were associated with increased stroke and dementia risk. Cardiovascular risk factors were found to be associated with penetrance of these variants.

Monogenic Stroke-Can We Overcome Nature With Nurture?
Jha Ruchira M et al. JAMA neurology 2022 10

A new study advances a paradigm shift away from the traditional dogma of monogenic disease that has long suggested that little (short of developing gene-targeted therapy) can be done about the genetic hand that has been dealt. The potential to reduce disease burden in monogenic stroke by harnessing cardiovascular risk is a powerful prospect. Developing targeted therapies remains important; indeed, given the markedly higher-than-expected prevalence of these variants.

Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke
A Ilinka et al, EJHG, October 17, 2022

We identified 168 SGP1 genes, 70 of these were validated for clinical practice. We also detected 72 SGP2 genes. Nine genes were removed because of conflicting evidence. The number of genes increased from 168 to 240 during 4.5-years, reflecting a dynamic evolution and the need for regular updates for research and clinical use.


Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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