Primary steps for primary care: Tuberous sclerosis complex (TSC)


TSC is an autosomal dominant neurocutaneous disorder affecting one in every 6,000-10,000 people. TSC manifests with multi-organ involvement including the skin, central nervous system, heart, lungs, eyes and kidneys. The most common identified cause is a variant in the tumor suppressor genes TSC1 or TSC2, on chromosomes 9p34 and 16p13, respectively. Abnormalities of these genes … Continue reading Primary steps for primary care: Tuberous sclerosis complex (TSC)

Ensuring Quality Care for Adults With Rare Genetic Epilepsies


As recently as 10 years ago, many patients with difficult to control epilepsy syndromes – such as Lennox Gastaut Syndrome – had no explanation for the cause of their epilepsy. Worse than not knowing the cause, disorders such as Lennox Gastaut and other rare epilepsies had almost no treatments specifically studied for them and research … Continue reading Ensuring Quality Care for Adults With Rare Genetic Epilepsies