title: Bromide in patients with SCN1A-mutations manifesting as Dravet syndrome.
abstract: We report a retrospective analysis of bromide therapy in 32 patients suffering from Dravet syndrome with SCN1A-mutations who received bromide. After 3 months of bromide treatment, 26 patients (81%) showed a relevant improvement with a reduction of seizure frequency by >50% (>75%) in 18 (12) patients (56 and 37%, respectively). After 12 months, we observed a reduction of >50% (>75%) in 15 (9) patients (47 and 28%, respectively). Long-term response was noted in 18 patients (56%). Adverse reactions were mainly mild or moderate leading to treatment termination in 5/32 patients; no aggravation was reported. We conclude that bromide holds promise in patients with SCN1A-mutations suffering from Dravet syndrome.
authors.affiliation: Neuropediatric Clinic and Clinic for Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schön Klinik Vogtareuth, Germany. jan.lotte@web.de
authors.forename: Jan
authors.initials: J
authors.lastname: Lotte
authors.forename: Edda
authors.initials: E
authors.lastname: Haberlandt
authors.forename: Bernd
authors.initials: B
authors.lastname: Neubauer
authors.forename: Martin
authors.initials: M
authors.lastname: Staudt
authors.forename: Gerhard Josef
authors.initials: GJ
authors.lastname: Kluger
mesh_terms: D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use*; D001965:Bromides / Q000627:therapeutic use*; D002648:Child; D002675:Child, Preschool; D004831:Epilepsies, Myoclonic / Q000188:drug therapy* / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D012189:Retrospective Studies; D015222:Sodium Channels / Q000235:genetics*; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D000927:Anticonvulsants; D001965:Bromides; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels