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 …

Between neurons and networks: investigating mesoscale brain connectivity in neurological and psychiatric disorders

AC Caznok Silveira, ASLM Antunes… - Frontiers in …, 2024 - frontiersin.org
The study of brain connectivity has been a cornerstone in understanding the complexities of
neurological and psychiatric disorders. It has provided invaluable insights into the functional …

The mTOR pathway genes mTOR, Rheb, Depdc5, Pten, and Tsc1 have convergent and divergent impacts on cortical neuron development and function

LH Nguyen, Y Xu, M Nair, A Bordey - Elife, 2024 - elifesciences.org
Brain somatic mutations in various components of the mTOR complex 1 (mTORC1) pathway
have emerged as major causes of focal malformations of cortical development and …

Influenza A virus during pregnancy disrupts maternal intestinal immunity and fetal cortical development in a dose-and time-dependent manner

AM Otero, MG Connolly, RJ Gonzalez-Ricon… - Molecular …, 2024 - nature.com
Epidemiological studies link exposure to viral infection during pregnancy, including
influenza A virus (IAV) infection, with increased incidence of neurodevelopmental disorders …

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 …

Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N‐methyl‐D‐aspartate receptors

L Pineau, E Buhler, S Tarhini, S Bauer, V Crepel… - …, 2024 - Wiley Online Library
Objective Genetic variations in proteins of the mechanistic target of rapamycin (mTOR)
pathway cause a spectrum of neurodevelopmental disorders often associated with brain …

The neurovascular unit dysfunction in the molecular mechanisms of epileptogenesis and targeted therapy

X Liu, Y Zhang, Y Zhao, Q Zhang, F Han - Neuroscience Bulletin, 2024 - Springer
Epilepsy is a multifaceted neurological syndrome characterized by recurrent, spontaneous,
and synchronous seizures. The pathogenesis of epilepsy, known as epileptogenesis …

[HTML][HTML] Malformations-related neocortical circuits in focal seizures

HJ Luhmann - Neurobiology of Disease, 2023 - Elsevier
This review article gives an overview on the molecular, cellular and network mechanisms
underlying focal seizures in neocortical networks with developmental malformations …

[HTML][HTML] Cannabinoids and Genetic Epilepsy Models: A Review with Focus on CDKL5 Deficiency Disorder

S Massey, A Quigley, S Rochfort… - International Journal of …, 2024 - mdpi.com
Pediatric genetic epilepsies, such as CDKL5 Deficiency Disorder (CDD), are severely
debilitating, with early-onset seizures occurring more than ten times daily in extreme cases …

Glycosphingolipids are linked to elevated neurotransmission and neurodegeneration in a Drosophila model of Niemann Pick type C

AE Eberwein, SS Kulkarni… - Disease Models & …, 2023 - journals.biologists.com
The lipid storage disease Niemann Pick type C (NPC) causes neurodegeneration owing
primarily to loss of NPC1. Here, we employed a Drosophila model to test links between …