Abstract
Investigators from multiple institutions (Cleveland Clinic, University Hospital Leuven, ZOL Genk, Kempenhaeghe and Maastricht UMC+, and Children's Hospitals and Clinics of Minnesota) used the Tuberous Sclerosis Complex Natural History Database (TSCNHD) to evaluate the relationship between epilepsy and neuropsychiatric disorders in individuals with TSC, along with any potential influence of genotype.
Highlights
Investigators from multiple institutions (Cleveland Clinic, University Hospital Leuven, ZOL Genk, Kempenhaeghe and Maastricht UMC+, and Children’s Hospitals and Clinics of Minnesota) used the Tuberous Sclerosis Complex Natural History Database (TSCNHD) to evaluate the relationship between epilepsy and neuropsychiatric disorders in individuals with TSC, along with any potential influence of genotype
Epilepsy was seen in 88% of patients and was more frequent in individuals with a TSC2 mutation
Epilepsy was associated with intellectual disability (ID), those with more severe ID
Summary
Investigators from multiple institutions (Cleveland Clinic, University Hospital Leuven, ZOL Genk, Kempenhaeghe and Maastricht UMC+, and Children’s Hospitals and Clinics of Minnesota) used the Tuberous Sclerosis Complex Natural History Database (TSCNHD) to evaluate the relationship between epilepsy and neuropsychiatric disorders in individuals with TSC, along with any potential influence of genotype. Epilepsy was seen in 88% of patients and was more frequent in individuals with a TSC2 mutation. Individuals with TSC2 mutation were more likely to have epilepsy onset at less than two years of age, as well as infantile spasms.
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