title: Rapid and safe response to low-dose carbamazepine in neonatal epilepsy.
abstract: To evaluate treatment responses in benign familial neonatal epilepsy (BFNE).
  
  
  
  We recruited patients with BFNE through a multicenter international collaboration and reviewed electroclinical and genetic details, and treatment response. All patients were tested at minimum for mutations/deletions in the KCNQ2, KCNQ3, and SCN2A genes.
  
  
  
  Nineteen patients were included in this study. A family history of neonatal seizures was positive in 16 patients, and one additional patient had a family history of infantile seizures. Mutations or deletions of KCNQ2 were found in 14, and of KCNQ3 in 2, of the 19 patients. In all patients, seizures began at 2-5 days of life and occurred multiple times per day. Four patients developed status epilepticus. Seizures were focal, alternating between hemispheres, and characterized by asymmetric tonic posturing associated with apnea and desaturation, followed by unilateral or bilateral asynchronous clonic jerking. Twelve of 19 patients were treated with multiple medications prior to seizure cessation. Seventeen of (88%) 19 patients were seizure-free within hours of receiving oral carbamazepine (CBZ) or oxcarbazepine (OXC). Earlier initiation of CBZ was associated with shorter hospitalization (p < 0.01). No side effects of CBZ were reported. All patients had normal development and remain seizure-free at a mean follow-up period of 7.8 years (6 months-16 years).
  
  
  
  This study provides evidence that CBZ is safe and rapidly effective in neonates with BFNE, even in status epilepticus. We propose that CBZ should be the drug of choice in benign familial neonatal seizures.
authors.affiliation: Department of Neurology, University of California San Francisco, San Francisco, California, U.S.A.
authors.forename: Tristan T
authors.initials: TT
authors.lastname: Sands
authors.affiliation: Department of Neurology, Bambino Gesú Children's Hospital and Research Institute, Rome, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Balestri
authors.affiliation: Department of Experimental Medicine, Second University of Naples, Naples, Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Bellini
authors.affiliation: Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, U.S.A.
authors.forename: Sarah B
authors.identifier: 0000-0002-8084-526X
authors.initials: SB
authors.lastname: Mulkey
authors.affiliation: Department of Pediatrics, University of California San Francisco, San Francisco, California, U.S.A.
authors.forename: Olivier
authors.initials: O
authors.lastname: Danhaive
authors.affiliation: Department of Pediatrics, University of California San Francisco, San Francisco, California, U.S.A.
authors.forename: Eliza Hayes
authors.initials: EH
authors.lastname: Bakken
authors.affiliation: Department of Health Science, University of Molise, Campobasso, Italy.
authors.forename: Maurizio
authors.initials: M
authors.lastname: Taglialatela
authors.affiliation: Department of Neurology, University of California San Francisco, San Francisco, California, U.S.A.
authors.forename: Michael S
authors.initials: MS
authors.lastname: Oldham
authors.affiliation: Department of Neurology, Bambino Gesú Children's Hospital and Research Institute, Rome, Italy.
authors.forename: Federico
authors.initials: F
authors.lastname: Vigevano
authors.affiliation: Department of Neurological Sciences, University of Vermont, College of Medicine, Burlington, Vermont, U.S.A.
authors.forename: Gregory L
authors.initials: GL
authors.lastname: Holmes
authors.affiliation: Department of Neurology, University of California San Francisco, San Francisco, California, U.S.A.
authors.forename: Maria Roberta
authors.initials: MR
authors.lastname: Cilio
mesh_terms: D000927:Anticonvulsants / Q000627:therapeutic use*; D002220:Carbamazepine / Q000494:pharmacology*; D002675:Child, Preschool; D004569:Electroencephalography; D020936:Epilepsy, Benign Neonatal / Q000000981:diagnostic imaging / Q000188:drug therapy* / Q000235:genetics; D005192:Family Health; D005260:Female; D005500:Follow-Up Studies; D005865:Gestational Age; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D062551:NAV1.2 Voltage-Gated Sodium Channel / Q000235:genetics; D015221:Potassium Channels / Q000235:genetics
chemical_list: D000927:Anticonvulsants; D062551:NAV1.2 Voltage-Gated Sodium Channel; D015221:Potassium Channels; C568251:SCN2A protein, human; D002220:Carbamazepine
keywords: Benign familial neonatal epilepsy; Carbamazepine; KCNQ2; KCNQ3; Neonatal seizures; Oxcarbazepine