Publications by authors named "Cynthia Sloan Birbeck"
Article Synopsis
- Tuberous sclerosis complex (TSC) is a genetic disorder caused by mutations in the TSC1 and TSC2 genes, leading to benign tumors and associated neuropsychiatric disorders and epilepsy, with TSC2 mutations usually resulting in more severe symptoms.
- A study was conducted on a 13-year-old patient and three family members with a specific TSC2 variant (R905Q), revealing a range of symptoms from severe epilepsy to mild dermatological features, highlighting the variant's unusual milder effects in some cases.
- The findings suggest the need for genetic testing in individuals with severe epilepsy, as the TSC2 R905Q variant can present without typical neurological signs, and it also underscores the significance of
Vagus nerve stimulation is a neuromodulatory treatment option for individuals with drug resistant epilepsy who are not resective surgical candidates. As the vagus nerve has widespread neural connections, stimulation can lead to an array of adverse effects. While vomiting and weight loss are known side effects of vagus nerve stimulation, these are typically transient, mild, and do not limit the ability to continue treatment.
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