Investigators from Necker Enfants Malades Hospital, Sorbonne Paris Cite University, Raymond Poincare University, and Paris Descartes University studied motor neuron function in children with Dravet syndrome (DS).

Dravet Syndrome is a severe, drug-resistant, and rare epileptiform disorder that typically presented in the first year of life an otherwise healthy child. It characterized by prolonged seizures are often resistant to current anti-epileptic drug regimens, which made them poorly controlled, almost 50% patients experience at least four tonic-clonic per month. There three new medicines: stiripentol...

In this issue of Brain, Brunklaus et al. report a study of 241 patients with Dravet syndrome carrying a SCN1A mutation, with the aim of identifying predictors of developmental outcome and determining specific clinical and demographic characteristics. The electroclinical features of a large cohort were collected and analysed prior to genetic testing. A total of 355 patients were diagnosed with D...

Investigators from various university hospitals, reference medical institutions and epilepsy centers, and the national institute for public health and environment in the Netherlands, studied the effect of vaccinations on seizure risk and disease course in patients with Dravet syndrome (DS).

Commentary Early infantile epileptic encephalopathy (EIEE) refers to severe early onset epilepsy with associated neurodevelopmental abnormalities. The term was used initially to reflect EIEE with suppression-burst pattern on EEG, or Ohtahara syndrome, but it has been applied more widely to a larger and growing group of epileptic encephalopathies; patients with mutations in the EIEE genes displa...

A substantial number of mutations have been identified in voltage-gated sodium channel genes that result in various forms of human epilepsy. SCN1A mutations result in a spectrum of severity ranging from mild febrile seizures to Dravet syndrome, an infant-onset epileptic encephalopathy. Dravet syndrome patients experience multiple seizures types that are often refractory to treatment, developmen...

Researchers from the University of Washington in Seattle studied selective heterozygous and homozygous deletions of the voltage gated sodium channel (Nav1.1) in parvalbumin (PV) or somato-statin (SST) expressing interneurons.