Rapid and safe response to low‐dose carbamazepine in neonatal epilepsy
- 26 November 2016
- Vol. 57 (12), 2019-2030
- https://doi.org/10.1111/epi.13596
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.Keywords
Funding Information
- European Commission (JTC 2007 EUROBNFS)
- Fondazione Telethon (GGP15113)
This publication has 37 references indexed in Scilit:
- Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significanceEpilepsia, 2013
- PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraineNeurology, 2012
- Risk Factors for Epilepsy in Children With Neonatal EncephalopathyPediatric Research, 2011
- Video-EEG monitoring in newborns with hypoxic-ischemic encephalopathy treated with hypothermiaNeurology, 2011
- Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizuresNeurology, 2009
- Deletions or duplications in KCNQ2 can cause benign familial neonatal seizuresJournal of Medical Genetics, 2007
- Low-dose carbamazepine therapy for benign infantile convulsionsBrain & Development, 2005
- Long‐term Effects of Status Epilepticus in the Immature Brain Are Specific for Age and ModelEpilepsia, 2003
- Benign infantile familial convulsionsEuropean Journal of Pediatrics, 1992