Sudden unexpected death in epilepsy: epidemiology, mechanisms, and prevention

O Devinsky, DC Hesdorffer, DJ Thurman…�- The Lancet�…, 2016 - thelancet.com
Sudden unexpected death in epilepsy (SUDEP) can affect individuals of any age, but is most
common in younger adults (aged 20–45 years). Generalised tonic-clonic seizures are the�…

SCN1A‐related phenotypes: epilepsy and beyond

IE Scheffer, R Nabbout�- Epilepsia, 2019 - Wiley Online Library
SCN1A, encoding the alpha 1 subunit of the sodium channel, is associated with several
epilepsy syndromes and a range of other diseases. SCN1A represents the archetypal�…

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�…

Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome

JS Kaplan, N Stella, WA Catterall…�- Proceedings of the�…, 2017 - National Acad Sciences
Worldwide medicinal use of cannabis is rapidly escalating, despite limited evidence of its
efficacy from preclinical and clinical studies. Here we show that cannabidiol (CBD)�…

Dose-ranging effect of adjunctive oral cannabidiol vs placebo on convulsive seizure frequency in Dravet syndrome: a randomized clinical trial

I Miller, IE Scheffer, B Gunning…�- JAMA�…, 2020 - jamanetwork.com
Importance Clinical evidence supports effectiveness of cannabidiol for treatment-resistant
seizures in Dravet syndrome, but this trial is the first to evaluate the 10-mg/kg/d dose�…

Autistic-like behaviour in Scn1a+/− mice and rescue by enhanced GABA-mediated neurotransmission

S Han, C Tai, RE Westenbroek, FH Yu, CS Cheah…�- Nature, 2012 - nature.com
Haploinsufficiency of the SCN1A gene encoding voltage-gated sodium channel NaV1. 1
causes Dravet's syndrome, a childhood neuropsychiatric disorder including recurrent�…

Sodium channelopathies in neurodevelopmental disorders

MH Meisler, SF Hill, W Yu�- Nature Reviews Neuroscience, 2021 - nature.com
The voltage-gated sodium channel α-subunit genes comprise a highly conserved gene
family. Mutations of three of these genes, SCN1A, SCN2A and SCN8A, are responsible for a�…

Optimizing the diagnosis and management of Dravet syndrome: recommendations from a North American consensus panel

EC Wirrell, L Laux, E Donner, N Jette, K Knupp…�- Pediatric�…, 2017 - Elsevier
Objectives To establish standards for early, cost-effective, and accurate diagnosis; optimal
therapies for seizures; and recommendations for evaluation and management of�…

Seizures in children

A Fine, EC Wirrell�- Pediatrics in review, 2020 - publications.aap.org
Epilepsy is one of the most common neurologic disorders seen in children, with the highest
incidence in the first year of life. Diagnostic accuracy can be challenging because many�…

Coadministered cannabidiol and clobazam: Preclinical evidence for both pharmacodynamic and pharmacokinetic interactions

LL Anderson, NL Absalom, SV Abelev, IK Low…�- …, 2019 - Wiley Online Library
Objective Cannabidiol (CBD) has been approved by the US Food and Drug Administration
(FDA) to treat intractable childhood epilepsies, such as Dravet syndrome and Lennox�…