Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy

P Curatolo, N Specchio, E Aronica - The Lancet Neurology, 2022 - thelancet.com
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 …

Epileptogenesis in tuberous sclerosis complex-related developmental and epileptic encephalopathy

E Aronica, N Specchio, MJ Luinenburg, P Curatolo - Brain, 2023 - academic.oup.com
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 …

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology …

N Specchio, EC Wirrell, IE Scheffer, R Nabbout… - …, 2022 - Wiley Online Library
Abstract The 2017 International League Against Epilepsy classification has defined a three‐
tier system with epilepsy syndrome identification at the third level. Although a syndrome …

[HTML][HTML] Genetic variations in GABA metabolism and epilepsy

Y Feng, ZH Wei, C Liu, GY Li, XZ Qiao, YJ Gan… - Seizure, 2022 - Elsevier
Epilepsy is a paroxysmal brain disorder that results from an imbalance between neuronal
excitation and inhibition. Gamma-aminobutyric acid (GABA) is the most important inhibitory …

Neuropsychiatric and cognitive comorbidities in epilepsy

M Mula, H Coleman, SJ Wilson - CONTINUUM: Lifelong Learning …, 2022 - journals.lww.com
Neuropsychiatric and Cognitive Comorbidities in Epilepsy : CONTINUUM: Lifelong
Learning in Neurology Account Register Activate Subscription Help Subscribe American …

Cenobamate (YKP3089) and drug-resistant epilepsy: A review of the literature

JP Rissardo, AL Fornari Caprara - Medicina, 2023 - mdpi.com
Cenobamate (CNB),([(R)-1-(2-chlorophenyl)-2-(2H-tetrazol-2-yl) ethyl], is a novel tetrazole
alkyl carbamate derivative. In November 2019, the Food and Drug Administration approved …

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

NJ Van Bergen, S Massey, A Quigley… - Biochemical Society …, 2022 - portlandpress.com
CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is
caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene …

Excitatory/inhibitory balance in epilepsies and neurodevelopmental disorders: Depolarizing γ‐aminobutyric acid as a common mechanism

EJH van van Hugte, D Schubert, N Nadif Kasri - Epilepsia, 2023 - Wiley Online Library
Epilepsy is one of the most common neurological disorders. Although many factors
contribute to epileptogenesis, seizure generation is mostly linked to hyperexcitability due to …

Targeting sigma receptors for the treatment of neurodegenerative and neurodevelopmental disorders

DS Malar, P Thitilertdecha, KS Ruckvongacheep… - CNS drugs, 2023 - Springer
The sigma-1 receptor is a 223 amino acid-long protein with a recently identified structure.
The sigma-2 receptor is a genetically unrelated protein with a similarly shaped binding …

The epilepsy–autism spectrum disorder phenotype in the era of molecular genetics and precision therapy

N Specchio, V Di Micco, M Trivisano, A Ferretti… - …, 2022 - Wiley Online Library
Autism spectrum disorder (ASD) is frequently associated with infants with epileptic
encephalopathy, and early interventions targeting social and cognitive deficits can have …