Tuberous sclerosis complex was once thought to be a rare disease but is now known to occur in about 1 in 6000 live births, [18] making it not quite as common as neurofibromatosis type 1 (1 in 4,000 ...
We provide a comprehensive panel that includes sequencing and deletion/duplication analysis for the TSC1 and TSC2 gene. Single gene sequencing and deletion/duplication analysis is also available for ...
Lisa Ratledge can still remember the sleepless nights fueled by the fear that her young son might have a seizure while she was asleep and die in his bed. She became tearful at the memory of her son, ...
Survey on tuberous sclerosis complex finds fragmented care, lack of information, scarcity of support
Tuberous sclerosis complex (TSC) is a rare genetic disease (approximate 1:6,000 birth incidence) with a wide variability of physical and neuropsychiatric symptoms. Patients require lifelong care from ...
Cassava Sciences Inc. a has reported positive preclinical results of a study evaluating simufilam in a mouse model of tuberous sclerosis complex (TSC)-related epilepsy. TSC is a rare genetic disorder ...
RADNOR, Pa.--(BUSINESS WIRE)--Marinus Pharmaceuticals, Inc. (Nasdaq: MRNS), a pharmaceutical company dedicated to the development of innovative therapeutics to treat seizure disorders, today announced ...
A common misconception about rare disorders is that they only effect a small number of people. However, according to the National Organization for Rare Disorders, around 25-30 million Americans are ...
The Company plans to discontinue further clinical development of ganaxolone in TSC. Marinus Pharmaceuticals announced that its phase 3 trial of ganaxolone did not meet the primary end point for the ...
In early childhood, a woman developed multiple red papules on the nose and cheeks with the appearance of angiofibromas (see Figure 1). As an adult, papules formed around her toes which were consistent ...
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