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Rapid and safe response to low‐dose carbamazepine in neonatal epilepsy
Author(s) -
Sands Tristan T.,
Balestri Martina,
Bellini Giulia,
Mulkey Sarah B.,
Danhaive Olivier,
Bakken Eliza Hayes,
Taglialatela Maurizio,
Oldham Michael S.,
Vigevano Federico,
Holmes Gregory L.,
Cilio Maria Roberta
Publication year - 2016
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/epi.13596
Subject(s) - carbamazepine , medicine , clonazepam , status epilepticus , epilepsy , pediatrics , oxcarbazepine , anesthesia , valproic acid , anticonvulsant , ethosuximide , family history , psychiatry
Summary Objective To evaluate treatment responses in benign familial neonatal epilepsy ( BFNE ). Methods 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 KCNQ 2, KCNQ 3, and SCN 2A genes. Results 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 KCNQ 2 were found in 14, and of KCNQ 3 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). Significance 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.