Distinctive Amplitude-Integrated EEG Ictal Pattern and Targeted Therapy with Carbamazepine in KCNQ2 and KCNQ3 Neonatal Epilepsy: A Case Series

Neuropediatrics, vol. 55, pp. 032–041

Abstract

BACKGROUND: Carbamazepine (CBZ) is effective in treating KCNQ2/3-related seizures, which may present with a distinctive amplitude-integrated electroencephalography (aEEG) pattern. OBJECTIVE: variants has enabled early and effective targeted therapy with CBZ. METHODS: pathogenic gene variants admitted at a level 3 neonatal intensive care unit (NICU) over an 8-year period. RESULTS: The distinctive ictal aEEG pattern was recognized in four neonates after an average of 61.5 hours (minimum 12 hours, maximum 120 hours) from the first electroclinical seizure and prompted the use of CBZ that was effective in all. The two most recently diagnosed patients could avoid polytherapy as they received CBZ as the first and second antiseizure medication, respectively. Three out of five patients with continuous normal voltage (CNV), sleep-wake cycling (SWC), and shorter postictal suppression had normal neurodevelopmental outcome. Regarding the remaining two infants, one was not trialed with CBZ and had a high seizure burden, both presented with a prolonged postictal suppression, no SWC, and had moderate-to-severe developmental delay. Genetic results became available after the neonatal period in all but one of the infants, who had a prenatal diagnosis. CONCLUSION: Recognition of the distinctive ictal aEEG pattern in the NICU allowed early and effective targeted therapy with CBZ in four neonates, well before genetic results became available. Furthermore, a CNV background pattern with SWC and short postictal suppression were associated with normal developmental outcomes.

Authors 4

1. Ana Vilan

   Universidade do Porto · Hospital de São João

   Affiliation as printed

   Department of Neonatology, Centro Hospitalar São João, Faculty of Medicine, University of Porto, Porto, Portugal

2. Ana Grangeia

   Universidade do Porto · Hospital de São João

   Affiliation as printed

   Department of Genetics, Centro Hospitalar São João, Faculty of Medicine, University of Porto, Porto, Portugal

3. Maria Roberta Cilio

   UCLouvain · KU Leuven

   Affiliation as printed

   Division of Pediatric Neurology, Department of Pediatrics, Catholic University of Louvain, Brussels, Belgium

4. Linda S. de Vries Aachen Department of Neonatology, Leiden University Medical Center

   Leiden University Medical Center

   Affiliation as printed

   Department of Neonatology, Leiden University Medical Center, Leiden, The Netherlands