Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum

R Guerrini, V Conti, M Mantegazza… - Physiological …, 2023 - journals.physiology.org
Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of
disorders characterized by early-onset, often severe epileptic seizures and EEG …

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress

JK Knowles, I Helbig, CS Metcalf, LS Lubbers… - …, 2022 - Wiley Online Library
The genetic basis of many epilepsies is increasingly understood, giving rise to the possibility
of precision treatments tailored to specific genetic etiologies. Despite this, current medical …

Animal models of drug-resistant epilepsy as tools for deciphering the cellular and molecular mechanisms of pharmacoresistance and discovering more effective …

W Löscher, HS White - Cells, 2023 - mdpi.com
In the last 30 years, over 20 new anti-seizure medicines (ASMs) have been introduced into
the market for the treatment of epilepsy using well-established preclinical seizure and …

Designing drugs when there is low data availability: one-shot learning and other approaches to face the issues of a long-term concern

GC Verissimo, MSM Serafim… - Expert Opinion on …, 2022 - Taylor & Francis
Introduction Modern drug discovery is generally accessed by useful information from
previous large databases or uncovering novel data. The lack of biological and/or chemical …

Cannabidiol reveals a disruptive strategy for 21st century epilepsy drug discovery

A Del Pozo, M Barker-Haliski - Experimental neurology, 2023 - Elsevier
Over 30 antiseizure medicines (ASMs) have been uncovered in a diversity of preclinical
seizure and epilepsy models, with several critical inflection points in the 20th century …

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 …

New epilepsy therapies in development

P Klein, RM Kaminski, M Koepp… - Nature Reviews Drug …, 2024 - nature.com
Epilepsy is a common brain disorder, characterized by spontaneous recurrent seizures, with
associated neuropsychiatric and cognitive comorbidities and increased mortality. Although …

Challenges and directions in epilepsy diagnostics and therapeutics: Proceedings of the 17th Epilepsy Therapies and Diagnostics Development conference

SW Terman, L Kirkpatrick, WT Kerr, LF Akiyama… - …, 2024 - Wiley Online Library
Substantial efforts are underway toward optimizing the diagnosis, monitoring, and treatment
of seizures and epilepsy. We describe preclinical programs in place for screening …

Testing of putative antiseizure medications in a preclinical Dravet syndrome zebrafish model

PA Whyte-Fagundes, A Vance, A Carroll… - Brain …, 2024 - academic.oup.com
Dravet syndrome is a severe genetic epilepsy primarily caused by de novo mutations in a
voltage-activated sodium channel gene (SCN1A). Patients face life-threatening seizures that …

Functional investigation of a neuronal microcircuit in the CA1 area of the hippocampus reveals synaptic dysfunction in Dravet syndrome mice

Y Almog, A Mavashov, M Brusel… - Frontiers in Molecular …, 2022 - frontiersin.org
Dravet syndrome is severe childhood-onset epilepsy, caused by loss of function mutations in
the SCN1A gene, encoding for the voltage-gated sodium channel NaV1. 1. The leading …