Paolo Curatolo
YOU?
Author Swipe
View article: Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex
Mechanistic strategies for secondary prevention of developmental and epileptic encephalopathy in children with tuberous sclerosis complex Open
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by pathogenic variants in TSC1 or TSC2, leading to mTOR pathway dysregulation and a spectrum of systemic and neurological manifestations. Tuberous Sclerosis Complex …
View article: The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options
The epilepsy–autism phenotype associated with developmental and epileptic encephalopathies: New mechanism‐based therapeutic options Open
Epilepsy and autism often co‐occur in genetic developmental and epileptic encephalopathies (DEEs), but their underlying neurobiological processes remain poorly understood, complicating treatment. Advances in molecular genetics and understa…
View article: Vigabatrin‐associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex
Vigabatrin‐associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex Open
Objective Previous retrospective studies have reported vigabatrin‐associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined bra…
View article: Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy
Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy Open
Children with tuberous sclerosis complex (TSC), may experience a variety of seizure types in the first year of life, most often focal seizure sand epileptic spasms. Drug resistance is seen early in many patients, and the management of TSC …
View article: Using Machine Learning to Explore Shared Genetic Pathways and Possible Endophenotypes in Autism Spectrum Disorder
Using Machine Learning to Explore Shared Genetic Pathways and Possible Endophenotypes in Autism Spectrum Disorder Open
Autism spectrum disorder (ASD) is a heterogeneous condition, characterized by complex genetic architectures and intertwined genetic/environmental interactions. Novel analysis approaches to disentangle its pathophysiology by computing large…
View article: miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex Open
Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including…
View article: Current role of surgery for tuberous sclerosis complex‐associated epilepsy
Current role of surgery for tuberous sclerosis complex‐associated epilepsy Open
Tuberous sclerosis complex (TSC) is a rare multisystem, autosomal dominant neurocutaneous syndrome in which epilepsy is the most common of several neurological and psychiatric manifestations. Around two thirds of patients develop drug‐resi…
View article: Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study
Use of Nutritional Supplements Based on L-Theanine and Vitamin B6 in Children with Tourette Syndrome, with Anxiety Disorders: A Pilot Study Open
Background: Tourette syndrome (TS) is a neurodevelopmental disorder characterized by tics and co-occurring disorders. It has been suggested that anxiety occurs in 2–45% patients affected by Tourette syndrome. Despite dietary and nutritiona…
View article: Flexible object-oriented modelling for the control of large gas networks
Flexible object-oriented modelling for the control of large gas networks Open
In this work we develop an innovative framework for the dynamic modelling of natural gas transmission networks. Thanks to its flexibility, this tool may be used to support operation of the network while also giving the possibility to explo…
View article: Adjunctive everolimus therapy for tuberous sclerosis complex‐associated refractory seizures: Results from the postextension phase of EXIST‐3
Adjunctive everolimus therapy for tuberous sclerosis complex‐associated refractory seizures: Results from the postextension phase of EXIST‐3 Open
Objective Epilepsy is highly prevalent in patients with tuberous sclerosis complex (TSC). Everolimus showed higher efficacy than placebo for seizures in the primary analysis of the EXIST‐3 study. Here, we present the long‐term outcomes of …
View article: Editorial: Tuberous Sclerosis Complex – Diagnosis and Management
Editorial: Tuberous Sclerosis Complex – Diagnosis and Management Open
EDITORIAL article Front. Neurol., 05 October 2021 | https://doi.org/10.3389/fneur.2021.755868
View article: Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry Open
Background: Epilepsy is the most common neurological manifestation in individuals with tuberous sclerosis complex (TSC). However, real-world evidence on diagnosis and treatment patterns is limited. Here, we present data from TuberOus Scler…
View article: Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA) Open
Background Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant disorder caused by pathogenic variants in either the TSC1 or TSC2 gene. Common manifestations of TSC have been grouped into major and minor clinical diagn…
View article: Use of Nutraceutical Ingredient Combinations in the Management of Tension-Type Headaches with or without Sleep Disorders
Use of Nutraceutical Ingredient Combinations in the Management of Tension-Type Headaches with or without Sleep Disorders Open
Headache is the most common pain complaint in the pediatric population, with tension type headache (TTH) having a prevalence of 10–15% in children. Up to 70% of pediatric patients with chronic headache also experience sleep disruption, wit…
View article: MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis
MicroRNA‐34a activation in tuberous sclerosis complex during early brain development may lead to impaired corticogenesis Open
Aims Tuberous sclerosis complex (TSC) is a genetic disorder associated with dysregulation of the mechanistic target of rapamycin complex 1 (mTORC1) signalling pathway. Neurodevelopmental disorders, frequently present in TSC, are linked to …
View article: Sex Differences in Autism Spectrum Disorder: Repetitive Behaviors and Adaptive Functioning
Sex Differences in Autism Spectrum Disorder: Repetitive Behaviors and Adaptive Functioning Open
Sex differences in restricted and repetitive behaviors (RRBs) in individuals with Autism Spectrum Disorder (ASD) have been explored with mixed findings. We aimed to investigate sex differences in RRBs through a specific measure—i.e., the R…
View article: TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex Open
This non-interventional post-authorisation safety study (PASS) assessed the long-term safety of everolimus in patients with tuberous sclerosis complex (TSC) who participated in the TuberOus SClerosis registry to increase disease Awareness …
View article: Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex
Fetal Brain Magnetic Resonance Imaging Findings Predict Neurodevelopment in Children with Tuberous Sclerosis Complex Open
Fetal cerebral lesion scores correlate with neurodevelopment and ASD at 2 years in children with TSC.
View article: The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder: An Observational Study
The Impact of COVID-19 on the Adaptive Functioning, Behavioral Problems, and Repetitive Behaviors of Italian Children with Autism Spectrum Disorder: An Observational Study Open
Children with autism spectrum disorder (ASD) and their families have represented a fragile population on which the extreme circumstances of the COVID-19 outbreak may have doubly impaired. Interruption of therapeutical interventions deliver…
View article: Reevaluation of Serum Arylesterase Activity in Neurodevelopmental Disorders
Reevaluation of Serum Arylesterase Activity in Neurodevelopmental Disorders Open
Organophosphate compounds (OPs) interfere with neurodevelopment and are neurotoxic for humans and animals. They are first biotransformed to the more toxic oxon form, and then hydrolyzed to specific metabolites by the enzyme paraoxonase/ary…
View article: Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder
Clustering Analysis Supports the Detection of Biological Processes Related to Autism Spectrum Disorder Open
Genome sequencing has identified a large number of putative autism spectrum disorder (ASD) risk genes, revealing possible disrupted biological pathways; however, the genetic and environmental underpinnings of ASD remain mostly unanswered. …