Epilepsy affects~ 65 million people worldwide. First-line treatment options include> 20
antiseizure medications, but seizure control is not achieved in approximately one-third of …

The developmental and epileptic encephalopathies encompass a group of rare syndromes
characterised by severe drug-resistant epilepsy with onset in childhood and significant …

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that affects multiple
organ systems and is caused by loss-of-function mutations in one of two genes: TSC1 or …

Tuberous sclerosis complex is a rare genetic disease associated with mutations in the TSC1
or TSC2 genes, which cause overactivation of the mTOR complex. In the past 5 years …

Objective This study was undertaken to test the hypothesis that early vigabatrin treatment in
tuberous sclerosis complex (TSC) infants improves neurocognitive outcome at 24 months of …

The tuberous sclerosis complex (TSC), a multisystem, autosomal dominant disorder
affecting children and adults, results from mutations in one of two genes, TSC1 (encoding …

Epileptogenesis in infants with tuberous sclerosis complex (TSC) is a gradual and dynamic
process, leading to early onset and difficult-to-treat seizures. Several cellular, molecular and …

Background Genetic testing in CKD has recently been shown to have diagnostic utility with
many predicted implications for clinical management, but its effect on management has not …

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
presence of proliferative lesions throughout the body. Management of TSC is challenging …

Tuberous sclerosis complex (TSC) is a neurogenetic disorder due to loss-of-function TSC1
or TSC2 variants, characterized by tumors affecting multiple organs, including skin, brain …