Neurological and neuropsychiatric aspects of tuberous sclerosis complex

P Curatolo, R Moavero, PJ de Vries - The Lancet Neurology, 2015 - thelancet.com
Tuberous sclerosis (also known as tuberous sclerosis complex [TSC]) is a multisystem
genetic disorder that affects almost every organ in the body. Mutations in the TSC1 or TSC2 …

Autism spectrum disorders and neuropathology of the cerebellum

DR Hampson, GJ Blatt - Frontiers in neuroscience, 2015 - frontiersin.org
The cerebellum contains the largest number of neurons and synapses of any structure in the
central nervous system. The concept that the cerebellum is solely involved in fine motor …

Autism spectrum disorder and epilepsy: disorders with a shared biology

BH Lee, T Smith, AR Paciorkowski - Epilepsy & Behavior, 2015 - Elsevier
There is an increasing recognition of clinical overlap in patients presenting with epilepsy
and autism spectrum disorder (ASD), and a great deal of new information regarding the …

Diagnostic test utilization in evaluation for resective epilepsy surgery in children

P Jayakar, WD Gaillard, M Tripathi, MH Libenson… - …, 2014 - Wiley Online Library
Epilepsy surgery is highly successful in achieving seizure freedom in carefully selected
children with drug‐resistant focal epilepsy. Advances in technology have aided presurgical …

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

AL Numis, P Major, MA Montenegro, DA Muzykewicz… - Neurology, 2011 - AAN Enterprises
Objective: The purpose of this study was to assess the prevalence of and to identify
epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism …

Genetic and biologic classification of infantile spasms

AR Paciorkowski, LL Thio, WB Dobyns - Pediatric neurology, 2011 - Elsevier
Infantile spasms constitute an age-dependent epilepsy, highly associated with cognitive
impairment, autism, and movement disorders. Previous classification systems focused on a …

Genotype/phenotype correlations in tuberous sclerosis complex

P Curatolo, R Moavero, D Roberto… - Seminars in pediatric …, 2015 - Elsevier
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by the
development of widespread hamartomatous lesions in various organs, including brain, skin …

Single-cell Tsc1 knockout during corticogenesis generates tuber-like lesions and reduces seizure threshold in mice

DM Feliciano, T Su, J Lopez, JC Platel… - The Journal of clinical …, 2011 - Am Soc Clin Investig
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by
mutations in Tsc1 or Tsc2 that lead to mammalian target of rapamycin (mTOR) hyperactivity …

The neurodevelopmental pathogenesis of tuberous sclerosis complex (TSC)

DM Feliciano - Frontiers in Neuroanatomy, 2020 - frontiersin.org
Tuberous sclerosis complex (TSC) is a model disorder for understanding brain development
because the genes that cause TSC are known, many downstream molecular pathways have …

mTOR dysregulation and tuberous sclerosis-related epilepsy

P Curatolo, R Moavero… - Expert review of …, 2018 - Taylor & Francis
Introduction. The mammalian target of rapamycin (mTOR) pathway has emerged as a key
player for proper neural network development, and it is involved in epileptogenesis triggered …