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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 …
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 …
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 …
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 …
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 …
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
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 …
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 …
encephalopathy affecting 1 in 16 000 live births and characterized by a drug‐resistant …
Cannabidiol therapy for refractory epilepsy and seizure disorders
Cannabis-derived cannabinoids have neuroactive properties. Recently, there has been
emerging interest in the use of cannabidiol (CBD)-enriched products for treatment of drug …
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 …
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 …
components of cannabis, have been shown to have anticonvulsant effects. Cannabis oils …