Stiripentol in Dravet syndrome: results of a retrospective U.S. study.

Purpose: To review the efficacy and tolerability of stiripentol in the treatment of U.S. children with Dravet syndrome.

Dravet syndrome: patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects.

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 expressing both mitochondrial disease and Dravet syndrome.

Results: Two children were found to have pathological mutations in the SCN1A gene and defects in mitochondrial electron transport chain complex activity.

Cerebral MRI abnormalities associated with vigabatrin therapy.

Purpose: Investigate whether patients on vigabatrin demonstrated new-onset and reversible T(2)-weighted magnetic resonance imaging (MRI) abnormalities.

Methods: MRI of patients treated during vigabatrin therapy was reviewed, following detection of new basal ganglia, thalamus, and corpus callosum hyperintensities in an infant treated for infantile spasms. Patients were assessed for age at time of MRI, diagnosis, duration, and dose, MRI findings pre-, on, and postvigabatrin, concomitant medications, and clinical correlation.

Vagus nerve stimulation in children with mitochondrial electron transport chain deficiencies.

We retrospectively investigated outcome data for vagus nerve stimulation (VNS) in children less than 12 years of age with intractable seizures and mitochondrial disease. Five children with a mitochondrial disease, due to electron transport chain deficiency, were studied. Information was collected from clinic visits prior to, and subsequent to, VNS implantation.