Category: "Genetic sequencing"

Focus On With Dr. Sadek: Genetics of Epilepsy part 1 & 2

Focus On With Dr. Sadek: Genetics of Epilepsy part 1 & 2

As science and medicine continue to advance, so does the knowledge for the role genetics may play in epilepsy. While many people with epilepsy often worry if they will pass their epilepsy to future generations, they should be reassured that this risk is typically quite low. Inherited vs. Mutations It is important to distinguish that […]

Potassium Channel Dysfunction in Genetic Epilepsy

Potassium Channel Dysfunction in Genetic Epilepsy

Northwestern Medicine scientists have discovered functional links between dozens of potassium channel gene variants and neonatal epilepsy, according to a study published in JCI Insight. The findings represent a significant advancement in the understanding of the gene KCNQ2, according to Alfred George, Jr., MD, chair and Alfred Newton Richards Professor of Pharmacology and lead author of the study. KCNQ2 was among the first genes […]

RESEARCHERS LOCATE 440 GENES THAT DEVELOP EACH BRAIN DIFFERENTLY

RESEARCHERS LOCATE 440 GENES THAT DEVELOP EACH BRAIN DIFFERENTLY

Large-scale MRI and genetic datasets are helping us understand the common variants of the genes that help build the human cerebral cortex To map regions of the brain to specific genes, researchers at the University of California – San Diego did genome-wide association studies (GWAS) of the regional cortical surface area and thickness of 39,898 adults and […]

Can You Inherit Epilepsy?

Can You Inherit Epilepsy?

Genetics of Epilepsy As science and medicine continue to advance, so does the knowledge for the role genetics may play in epilepsy. While many people with epilepsy often worry if they will pass their epilepsy to future generations, they should be reassured that this risk is typically quite low. Inherited vs. Mutations It is important […]

Genetic Tests Prompt Therapy Adjustments in Epilepsy

Genetic Tests Prompt Therapy Adjustments in Epilepsy

Physicians at a Boston hospital adjusted medical management for nearly three-quarters of patients with infantile- or childhood-onset epilepsy who were diagnosed with genetic epilepsy, researchers reported at the annual meeting of the American Epilepsy Society. The findings provide new insight into the usefulness of genetic tests in children with epilepsy of unknown cause. “Genetic testing is […]

Genetic Testing Benefits Children With Unexplained Epilepsy

Genetic Testing Benefits Children With Unexplained Epilepsy

Findings can alter treatment, prognosis, overall care Genetic testing affected the medical care of nearly three of four children with unexplained epilepsy, a study of patients with infantile or childhood-onset seizures showed. A genetic diagnosis had a direct impact on medical management in at least one category for 72% of patients and in more than […]

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