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�…
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�…
Definitions proposes a classification and definition of epilepsy syndromes in the neonate�…
[HTML][HTML] From genotype to phenotype in Dravet disease
S Gataullina, O Dulac�- Seizure, 2017 - Elsevier
Dravet syndrome combines clonic generalized, focal or unilateral seizures, beginning within
the first year of life, often triggered by hyperthermia whatever its cause, including pertussis�…
the first year of life, often triggered by hyperthermia whatever its cause, including pertussis�…
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�…
seizures in Dravet syndrome, but this trial is the first to evaluate the 10-mg/kg/d dose�…
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications
A Brunklaus, T Br�nger, T Feng, C Fons, A Lehikoinen…�- Brain, 2022 - academic.oup.com
Brain voltage-gated sodium channel NaV1. 1 (SCN1A) loss-of-function variants cause the
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic�…
severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic�…
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�…
Mortality in Dravet syndrome
We measured the mortality rate and the rate of Sudden Unexpected Death in Epilepsy
(SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited�…
(SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited�…
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�…
(FDA) to treat intractable childhood epilepsies, such as Dravet syndrome and Lennox�…
Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy
Objective The leading cause of epilepsy‐related premature mortality is sudden unexpected
death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic�…
death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To search for genetic�…
Add‐on cannabidiol in patients with Dravet syndrome: Results of a long‐term open‐label extension trial
IE Scheffer, JJ Halford, I Miller, R Nabbout…�- …, 2021 - Wiley Online Library
Objective Add‐on cannabidiol (CBD) reduced seizures associated with Dravet syndrome
(DS) in two randomized, double‐blind, placebo‐controlled trials: GWPCARE1 Part B�…
(DS) in two randomized, double‐blind, placebo‐controlled trials: GWPCARE1 Part B�…