Crosstalk between neuroinflammation and oxidative stress in epilepsy

T Fabisiak, M Patel - Frontiers in cell and developmental biology, 2022 - frontiersin.org
The roles of both neuroinflammation and oxidative stress in the pathophysiology of epilepsy
have begun to receive considerable attention in recent years. However, these concepts are …

Voltage-gated ion channels in epilepsies: circuit dysfunctions and treatments

D Debanne, K Mylonaki, ML Musella… - Trends in Pharmacological …, 2024 - cell.com
Epileptic encephalopathies are generally considered to be functional disruptions in the
balance between neural excitation and inhibition. Excitatory and inhibitory voltage-gated ion …

Cell-Selective Adeno-Associated Virus-Mediated SCN1A Gene Regulation Therapy Rescues Mortality and Seizure Phenotypes in a Dravet Syndrome Mouse Model …

A Tanenhaus, T Stowe, A Young, J McLaughlin… - Human gene …, 2022 - liebertpub.com
Dravet syndrome (DS) is a developmental and epileptic encephalopathy caused by
monoallelic loss-of-function variants in the SCN1A gene. SCN1A encodes for the alpha …

Temporal manipulation of the Scn1a gene reveals its essential role in adult brain function

C Di Berardino, M Mainardi, S Brusco, E Benvenuto… - Brain, 2024 - academic.oup.com
Dravet syndrome is a severe epileptic encephalopathy, characterized by drug-resistant
epilepsy, severe cognitive and behavioural deficits, with increased risk of sudden …

Reduction of Kcnt1 is therapeutic in mouse models of SCN1A and SCN8A epilepsy

SF Hill, P Jafar-Nejad, F Rigo, MH Meisler - Frontiers in Neuroscience, 2023 - frontiersin.org
Developmental and epileptic encephalopathies (DEEs) are severe seizure disorders with
inadequate treatment options. Gain-or loss-of-function mutations of neuronal ion channel …

Viral vector–mediated expression of NaV1.1, after seizure onset, reduces epilepsy in mice with Dravet syndrome

S Fadila, B Beucher, IG Dopeso-Reyes… - The Journal of …, 2023 - Am Soc Clin Investig
Dravet syndrome (DS), an intractable childhood epileptic encephalopathy with a high fatality
rate, is typically caused by loss-of-function mutations in one allele of SCN1A, which encodes …

Reversibility and therapeutic development for neurodevelopmental disorders, insights from genetic animal models

P Megagiannis, R Suresh, GA Rouleau… - Advanced Drug Delivery …, 2022 - Elsevier
Abstract Neurodevelopmental Disorders (NDDs) encompass a broad spectrum of conditions
resulting from atypical brain development. Over the past decades, we have had the fortune …

Are genetic therapies for epilepsy ready for the clinic?

JS Street, Y Qiu, G Lignani - Epilepsy Currents, 2023 - journals.sagepub.com
In recent years, there has been a significant increase in preclinical studies to test genetic
therapies for epilepsy. Some of these therapies have advanced to clinical trials and are …

SCN1A as a therapeutic target for Dravet syndrome

KA Myers - Expert Opinion on Therapeutic Targets, 2023 - Taylor & Francis
Introduction Dravet syndrome is a severe early infancy-onset developmental and epileptic
encephalopathy. Patients have drug-resistant seizures, as well as significant co-morbidities …

Unraveling the molecular landscape of SCN1A gene knockout in cerebral organoids: a multiomics approach utilizing proteomics, lipidomics, and transcriptomics

B Koh, YE Kim, SB Park, SS Kim, J Lee, JH Jo… - ACS …, 2024 - ACS Publications
This study investigates the impact of sodium channel protein type 1 subunit alpha (SCN1A)
gene knockout (SCN1A KO) on brain development and function using cerebral organoids …