title: Malignant autosomal dominant frontal lobe epilepsy with repeated episodes of status epilepticus: successful treatment with vagal nerve stimulation.
abstract: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a familial partial epilepsy syndrome characterized by seizures suggesting a frontal lobe origin occurring predominantly during sleep. Up to a third of patients may have refractory seizures, with repeated episodes of status epilepticus, intellectual disability of variable degree and psychiatric disturbances. We report a patient with ADNFLE, refractory seizures and repeated episodes of life-threatening convulsive status epilepticus who underwent prolonged video-EEG monitoring and was implanted with a vagal nerve stimulator. At 3.5 years of follow-up, a decrease of more than 80% in seizure frequency was achieved, episodes of status were completely controlled and he displayed improved mood and alertness. Vagal nerve stimulation may be considered as therapy for patients with refractory epilepsies of genetic cause, as well as repeated status epilepticus.
authors.affiliation: Epilepsy Unit, Department of Neurology, Hospital Clínic, Barcelona, Spain.
authors.forename: Mar
authors.initials: M
authors.lastname: Carreño
authors.forename: Dionisio
authors.initials: D
authors.lastname: Garcia-Alvarez
authors.forename: Iratxe
authors.initials: I
authors.lastname: Maestro
authors.forename: Santiago
authors.initials: S
authors.lastname: Fernández
authors.forename: Antonio
authors.initials: A
authors.lastname: Donaire
authors.forename: Teresa
authors.initials: T
authors.lastname: Boget
authors.forename: Jordi
authors.initials: J
authors.lastname: Rumià
authors.forename: Luis
authors.initials: L
authors.lastname: Pintor
authors.forename: Xavier
authors.initials: X
authors.lastname: Setoain
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D004569:Electroencephalography; D017034:Epilepsy, Frontal Lobe / Q000235:genetics* / Q000628:therapy*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D013226:Status Epilepticus / Q000235:genetics* / Q000628:therapy*; D016896:Treatment Outcome; D055536:Vagus Nerve Stimulation; D014741:Video Recording