Dravet syndrome

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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

[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 ?
Biscayne is initially developing BIS-001 for the treatment of adults with refractory focal epilepsy and children with Dravet syndrome, a devastating disorder characterized by frequent intractable seizures and cognitive impairment.
GW is adopting an official development program for Epidiolex in major, drug-resistant childhood epilepsy syndromes that comprise of 2 main Phase 3 trials of Epidiolex in Dravet syndrome and 2 pivotal Phase 3 trials of Epidiolex in Lennox-Gastaut syndrome.
She was diagnosed with incurable Dravet syndrome, a rare type of epilepsy, at just 14 months.
Paige Figi's daughter, Charlotte, suffers from an uncommon form of epilepsy called Dravet syndrome, which affects about 1 in 30,000 children.
Jade, 13, was born with Dravet Syndrome and is supported by the charity Smile for Life.
While my son lay in intensive care I did some research online and came across Dravet syndrome, a severe and aggressive form of epilepsy that starts in the first year of life in an otherwise healthy child.
which is in Phase 3 clinical development for the treatment of Dravet syndrome and which is also expected to enter Phase 3 clinical trials in the treatment of Lennox-Gastaut syndrome and Tuberous Sclerosis Complex.
The representative's interest in medical marijuana came after she met constituents in her district who have children suffering from Dravet syndrome, a rare form of epilepsy that begins in infancy.
The main efficacy analyses based on the 58 patients treated for at least 3 months showed that the median reduction in seizure frequency was about 35% overall and 55% for patients with Dravet syndrome.
For instance, since 2001 stiripentol has been widely used in Europe to treat Dravet Syndrome, a genetic form of epilepsy.
Family flowers only, donations to Ronald McDonald House, Alder Hey or Dravet Syndrome.
Nicola Maskell, 28, from Loftus, cares for her young son, Billy, four, who has dravet syndrome, a severe form of epilepsy.