OBJECTIVE: De novo mutations of the gene sodium channel 1a (SCN1A) are the major cause of Dravet syndrome, an infantile epileptic encephalopathy. US incidence of DS has been estimated at 1 in 40 000, but no US epidemiologic studies have been performed since the advent of genetic testing. METHODS: In a retrospective, population-based cohort of all infants born at Kaiser Permanente Northern Calif...

"Dravet syndrome" (DS) previously named severe myoclonic epilepsy of infancy (SMEI), or epilepsy with polymorphic seizures, is a rare disorder characterized by an early, severe, generalized, epileptic encephalopathy.DS is characterized by febrile and afebrile seizures beginning in the 1st year of life followed by different types of seizures (either focal or generalized), which are typically res...

Commentary Advances in cellular reprogramming have made it possible to generate virtually any cell type from pluripotent stem cells. Initially, embryonic stem cells were the only source of truly plu-ripotent cells. However, in 2007, it was reported that induced pluripotent stem cells (iPSCs) could be generated from human somatic cells (1, 2). This discovery enabled iPSCs generated from patients...

Dravet syndrome is a rare childhood epilepsy syndrome with an incidence of 1 in 40,000 births.1 Clinically, this syndrome is characterized by onset of recurrent febrile and afebrile seizures during the first year of life in a previously normal infant. Seizures are typically febrile, hemiclonic, or generalized, and are often prolonged with status epilepticus. Subsequently, myoclonic seizures, ab...

PURPOSE To review our cohort of patients with Dravet syndrome and determine if patients with SCN1A mutations can also express mitochondrial disease due to electron transport chain dysfunction. METHODS A retrospective chart review was used to describe clinical manifestations and retrieve biochemical testing, neuroimaging, gene sequencing, and electroencephalographic results of patients express...

Dravet syndrome is caused by mutations of the SCN1A gene that encodes voltage-gated sodium channel alpha-1 subunit. SCN1A-knock-in mouse with a disease-relevant nonsense mutation that we generated reproduced the disease phenotypes. Both homozygous and heterozygous knock-in mice developed epileptic seizures within the fi rst postnatal month. Our immunohistochemical studies showed that in wild-ty...

Dravet syndrome (DS) is one of the refractory epileptic encephalopathies [3], one of the spectra of severe myoclonic Epilepsy of Infancy (SMEI) which occurs in otherwise healthy individuals [2]. Its incidence has been estimated to be 1 in 2000040000. It is more common in males than in females. Positive family history is encountered in one fourth of the cases. DS Usually started by clonic/tonic-...

In situ fixation of SCFE is the widely accepted treatment for both stable and unstable SCFE. Prophylactic contralateral hip remains controversial. There still no agreement about removal screws in absence implant-related symptoms.The case A a slipped capital femoral epiphysis an adolescent with Dravet Syndrome after seizure attack. To best our knowledge, this first report worldwide presentatio...

Dravet syndrome is a highly pharmaco-resistant form of epilepsy. Valproate and benzodiazepines are the first-line treatment but are usually insufficient therapeutic options. Lamotrigine, carbamazepine and high doses of intravenous phenobarbital can aggravate seizures and should be avoided. Topiramate, levetiracetam, bromide and ketogenic diet also provide substantial efficacy as adjunctive ther...

The onset of Dravet syndrome typically occurs within the first year, with prolonged, generalized, or unilateral clonic seizures triggered by fever. In the early stages, other types of refractory seizures usually present that include myoclonic seizures, atypical absences, and partial seizures. Electroencephalography (EEG) findings are not pathognomonic, and signs of cognitive arrest or deteriora...