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 …

Natural product-derived therapies for treating drug-resistant epilepsies: from ethnopharmacology to evidence-based medicine

S Challal, A Skiba, M Langlois, CV Esguerra… - Journal of …, 2023 - Elsevier
Ethnopharmacological relevance Epilepsy is one of the most prevalent neurological human
diseases, affecting 1% of the population in all age groups. Despite the availability of over 25 …

[HTML][HTML] Therapeutic approaches to tuberous sclerosis complex: from available therapies to promising drug targets

E Conte, B Boccanegra, G Dinoi, M Pusch, A De Luca… - Biomolecules, 2024 - mdpi.com
Tuberous sclerosis complex (TSC) is a rare multisystem disorder caused by heterozygous
loss-of-function pathogenic variants in the tumour suppressor genes TSC1 and TSC2 …

Seizures exacerbate excitatory: inhibitory imbalance in Alzheimer's disease and 5XFAD mice

AJ Barbour, S Gourmaud, E Lancaster, X Li… - Brain, 2024 - academic.oup.com
Approximately 22% of Alzheimer's disease (AD) patients suffer from seizures, and the co-
occurrence of seizures and epileptiform activity exacerbates AD pathology and related …

[HTML][HTML] Modeling mTORopathy-related epilepsy in cultured murine hippocampal neurons using the multi-electrode array

AM Heuvelmans, MP Onori, M Frega… - Experimental …, 2024 - Elsevier
The mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway is a
ubiquitous cellular pathway. mTORopathies, a group of disorders characterized by …

Insights into the structure and function of the hippocampus: implications for the pathophysiology and treatment of autism spectrum disorder

J Long, H Li, Y Liu, X Liao, Z Tang, K Han… - Frontiers in …, 2024 - frontiersin.org
The hippocampus is one of the brain areas affected by autism spectrum disorder (ASD).
Individuals with ASD typically have impairments in hippocampus-dependent learning …

mTOR and neuroinflammation in epilepsy: implications for disease progression and treatment

T Ravizza, M Scheper, R Di Sapia, J Gorter… - Nature Reviews …, 2024 - nature.com
Epilepsy remains a major health concern as anti-seizure medications frequently fail, and
there is currently no treatment to stop or prevent epileptogenesis, the process underlying the …

Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update

Y Yang, J Tuo, J Zhang, Z Xu, Z Luo - Frontiers in Neurology, 2024 - frontiersin.org
Sleep-related hypermotor epilepsy (SHE) is a focal epilepsy syndrome characterized by a
variable age of onset and heterogeneous etiology. Current literature suggests a prevalence …

Modeling tuberous sclerosis complex with human induced pluripotent stem cells

W Niu, B Siciliano, Z Wen - World Journal of Pediatrics, 2024 - Springer
Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder
with a birth incidence of 1: 6000 in the United States that is characterized by the growth of …

Extension of microglial activation is associated with epilepsy and cognitive dysfunction in Tuberous sclerosis complex: A TSPO-PET study

K Kagitani-Shimono, H Kato, F Soeda, Y Iwatani… - NeuroImage: Clinical, 2023 - Elsevier
Background and objectives Neuroinflammation contributes to the severity of various
neurological disorders, including epilepsy. Tuberous sclerosis complex (TSC) is a condition …