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 …

Biomarkers for epileptogenesis and its treatment

J Engel Jr, A Pitkänen - Neuropharmacology, 2020 - Elsevier
There are no pharmacological interventions to prevent the development of epilepsy,
although many promising compounds have been identified in the animal laboratory. Clinical …

mTOR-related synaptic pathology causes autism spectrum disorder-associated functional hyperconnectivity

M Pagani, N Barsotti, A Bertero, S Trakoshis… - Nature …, 2021 - nature.com
Postmortem studies have revealed increased density of excitatory synapses in the brains of
individuals with autism spectrum disorder (ASD), with a putative link to aberrant mTOR …

Update on drug management of refractory epilepsy in tuberous sclerosis complex

E van der Poest Clement, FE Jansen, KPJ Braun… - Pediatric Drugs, 2020 - Springer
Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder with epilepsy as a
common and early presenting symptom. The neurological phenotype, however, is variable …

[HTML][HTML] Effects of mutations in TSC genes on neurodevelopment and synaptic transmission

D Bassetti, HJ Luhmann, S Kirischuk - International Journal of Molecular …, 2021 - mdpi.com
Mutations in TSC1 or TSC2 genes are linked to alterations in neuronal function which
ultimately lead to the development of a complex neurological phenotype. Here we review …

Tuber locations associated with infantile spasms map to a common brain network

AL Cohen, BPF Mulder, AK Prohl… - Annals of …, 2021 - Wiley Online Library
Objective Approximately 50% of patients with tuberous sclerosis complex develop infantile
spasms, a sudden onset epilepsy syndrome associated with poor neurological outcomes …

Treatment-resistant epilepsy and tuberous sclerosis complex: treatment, maintenance, and future directions

A Singh, A Had**icolaou, JM Peters… - Neuropsychiatric …, 2023 - Taylor & Francis
Tuberous sclerosis complex (TSC) is a neurogenetic disorder that affects multiple organ
systems, including the heart, kidneys, eyes, skin, and central nervous system. The …

Seizure detection algorithm based on fusion of spatio-temporal network constructed with dispersion index

Y **ong, J Li, D Wu, F Dong, J Liu, L Jiang… - … Signal Processing and …, 2023 - Elsevier
Epilepsy is one of the common brain disorders. Traditional seizure detection is done by
electroencephalography (EEG) technicians, which takes a lot of time. Therefore, this paper …

Seizure detection based on improved genetic algorithm optimized multilayer network

Y **ong, F Dong, D Wu, L Jiang, J Liu, B Li - IEEE Access, 2022 - ieeexplore.ieee.org
With the increasment of epilepsy patients, traditional epileptic seizure recognition is
generally completed by encephalography (EEG) technicians, which is time-consuming and …

[HTML][HTML] Abnormal directed connectivity of resting state networks in focal epilepsy

M Carboni, P De Stefano, BJ Vorderwülbecke… - NeuroImage: Clinical, 2020 - Elsevier
Objective Epilepsy diagnosis can be difficult in the absence of interictal epileptic discharges
(IED) on scalp EEG. We used high-density EEG to measure connectivity in large‐scale …