The genetics of epilepsy

P Perucca, M Bahlo, SF Berkovic - Annual review of genomics …, 2020 - annualreviews.org
Epilepsy encompasses a group of heterogeneous brain diseases that affect more than 50
million people worldwide. Epilepsy may have discernible structural, infectious, metabolic …

Therapeutic and clinical foundations of cannabidiol therapy for difficult-to-treat seizures in children and adults with refractory epilepsies

DS Reddy - Experimental neurology, 2023 - Elsevier
Novel and effective antiseizure medications are needed to treat refractory and rare forms of
epilepsy. Cannabinoids, which are obtained from the cannabis plant, have a long history of …

ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …

Long‐term cannabidiol treatment in patients with Dravet syndrome: An open‐label extension trial

O Devinsky, R Nabbout, I Miller, L Laux… - …, 2019 - Wiley Online Library
Objective Add‐on cannabidiol (CBD) significantly reduced seizures associated with Dravet
syndrome (DS) in a randomized, double‐blind, placebo‐controlled trial: GWPCARE1 Part B …

SCN1A Mutation—Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis

J Ding, X Li, H Tian, L Wang, B Guo, Y Wang… - Frontiers in …, 2021 - frontiersin.org
Background: SCN1A is one of the most common epilepsy genes. About 80% of SCN1A
gene mutations cause Dravet syndrome (DS), which is a severe and catastrophic epileptic …

[HTML][HTML] Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy

A Bayat, M Bayat, G Rubboli, RS Møller - Genes, 2021 - mdpi.com
The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …

Guidance on Dravet syndrome from infant to adult care: road map for treatment planning in Europe

E Cardenal‐Muñoz, S Auvin, V Villanueva… - Epilepsia …, 2022 - Wiley Online Library
Dravet syndrome (DS) is a severe, rare, and complex developmental and epileptic
encephalopathy affecting 1 in 16 000 live births and characterized by a drug‐resistant …

Cannabidiol therapy for refractory epilepsy and seizure disorders

V Golub, DS Reddy - Cannabinoids and neuropsychiatric disorders, 2021 - Springer
Cannabis-derived cannabinoids have neuroactive properties. Recently, there has been
emerging interest in the use of cannabidiol (CBD)-enriched products for treatment of drug …

Identifying mutations in epilepsy genes: impact on treatment selection

P Perucca, E Perucca - Epilepsy research, 2019 - Elsevier
The last decade saw impressive advances not only in the discovery of gene mutations
causing epilepsy, but also in unraveling the molecular mechanisms underlying the clinical …

A prospective open‐label trial of a CBD/THC cannabis oil in dravet syndrome

B McCoy, L Wang, M Zak, S Al‐Mehmadi… - Annals of Clinical …, 2018 - Wiley Online Library
Abstract Introduction Both Δ9 Tetrahydrocannabidiol (THC) and cannabidiol (CBD)
components of cannabis, have been shown to have anticonvulsant effects. Cannabis oils …