Symptom profiles of autism spectrum disorder in tuberous sclerosis complex
, 2016 ObjectiveTo determine the extent to which deficits associated with autism spectrum disorder (ASD) in toddlers with tuberous sclerosis complex (TSC) overlap with those in toddlers with nonsyndromic ASD (nsASD) and to examine cognitive function and ...
Varcin, Kandice J +8 more
core +1 more source
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source
Cortical blindness as severe neuro-ophthalmological manifestation of tuberous sclerosis complex
, 2017 Patients with retinal lesions related to tuberous sclerous complex (TSC) commonly have no impairment of visual acuity.
Cárdenas, Pedro Luis +7 more
core +1 more source
Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex [PDF]
, 2015 Tuberous sclerosis complex is an autosomal dominant genetic disorder that confers a high risk for neurodevelopmental disorders, such as autism spectrum disorder and intellectual disability.
Varcin, Kandice J +11 more
core +1 more source
Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort
Epilepsia, EarlyView.Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen +12 more
wiley +1 more source
Tuberous Sclerosis Complex Renal Disease
, 2010 Although not as common as other genetic renal diseases such as autosomal dominant polycystic kidney disease, patients with tuberous sclerosis complex frequently have significant renal involvement.
Bradley P. Dixon +2 more
core +1 more source
Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex
Epilepsia, EarlyView.Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo +4 more
wiley +1 more source
New insights into epileptic spasm generation and treatment from the TTX animal model
Epilepsia Open, EarlyView.Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
John W. Swann +2 more
wiley +1 more source
Rhinophyma in tuberous sclerosis complex: case report with brief review of literature
, 2014 Tuberous sclerosis or tuberous sclerosis complex (TSC) is an autosomal dominant inherited disease characterized by the triad epilepsy, hamartomas (angiofibroma) and reduced intellectual capacity. Phenotype can vary considerably.
Friedrich, Reinhard E. +3 more
core +1 more source
Precision therapies for genetic epilepsies in 2025: Promises and pitfalls
Epilepsia Open, EarlyView.Abstract By targeting the underlying etiology, precision therapies offer an exciting paradigm shift to improve the stagnant outcomes of drug‐resistant epilepsies, including developmental and epileptic encephalopathies. Unlike conventional antiseizure medications (ASMs) which only treat the symptoms (seizures) but have no effect on the underlying ...
Shuyu Wang +3 more
wiley +1 more source