Dravet syndrome

severe myoclonic epilepsy of infancy

A rare disorder (OMIM:607208) characterised by generalised tonic, clonic and tonic-clonic seizures triggered at first by fever and arising shortly after birth. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor developmental delay appears by the second year of life. SMEI is the most severe phenotype in the spectrum of generalised epilepsies with febrile seizures-plus.

Molecular pathology
Defects of GABRG2, which encodes a subunit of a ligand-gated ionic channel that plays a key role in inhibiting neurotransmission, cause severe myoclonic epilepsy of infancy.

Dravet syndrome

(dra-va')
[Charlotte Dravet, Fr. psychiatrist and epileptologist, b. 1936]
A severe form of childhood epilepsy, often beginning in the first year of life as a febrile seizure. As the affected children grow up, they develop myoclonic jerking, and their seizures may become refractory to treatment. Synonym: severe myoclonic epilepsy of infancy
References in periodicals archive ?
The six-year-old suffers from Dravet syndrome - a rare condition which means she suffers countless seizures daily.
The analyst's research makes him optimistic regarding the path for Zogenix to extend the exclusivity period of ZX008 in Dravet syndrome beyond the consensus expectation of seven-and-a-half years of orphan/pediatric drug exclusivities.
Mrs Price said: "Corey has Dravet Syndrome, a type of epilepsy.
United States-based Zogenix has received breakthrough therapy designation from the US Food and Drug Administration (FDA) for its investigational product, ZX008 (low-dose fenfluramine) intended for the treatment of seizures associated with Dravet syndrome, it was reported yesterday.
I was moved by Jun and Myca Yutuc, the parents of Moon Jaden who was suffering from Dravet Syndrome.
Trial of cannabidiol for drug-resistant seizures in the Dravet syndrome.
Now, there is evidence whether marijuana can be helpful in treating epilepsy and control seizures, also in difficult to control conditions like Lennox-Gastaut syndrome (LGS) in children and adults as well as Dravet syndrome in children.
After MRIs and other tests drew a blank, Joshua has only recently been diagnosed with Dravet syndrome, thought to affect around one in every 300 epilepsy sufferers.
The study, published in The New England Journal of Medicine, focused on Dravet syndrome, a severe form of epilepsy beginning in infancy that is associated with drug-resistant seizures and a high mortality rate.
The cannabidiol compound reduced convulsive seizures by nearly 40% in teenagers and children with Dravet syndrome, a rare and severe epileptic condition that does not respond to traditional drug treatments.
This not only paid for Thomas' equipment but also left funds over which are being donated to a charity for Dravet Syndrome - which Thomas has been diagnosed with - a rare genetic brain condition.
Epidiolex (CBD) orphan epilepsy program in Dravet syndrome, Lennox-Gastaut Syndrome (LGS), Tuberous Sclerosis Complex (TSC) and infantile spasms (IS) Regulatory: NDA submission for both Dravet and LGS indications expected mid-2017 Expected EU regulatory submission in H2 2017 Rare pediatric disease designation conditionally granted by FDA pre-cursor to priority review voucher Orphan Designation granted by European Medicines Agency (EMA) in the treatment of LGS.