A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations

Ana Vilan, José Mendes Ribeiro, Pasquale Striano, Sarah Weckhuysen, Lauren C Weeke, Eva Brilstra, Linda S de Vries, Maria Roberta Cilio

Research output: Contribution to journalArticle

Abstract

BACKGROUND: Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm of the workup and management of neonatal seizures.

OBJECTIVE: To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy.

SUBJECTS AND METHODS: In this multicenter descriptive study, clinical data and aEEG findings of 9 newborns with KCNQ2 mutations are reported.

RESULTS: Refractory seizures occurred in the early neonatal period with similar seizure type, including tonic features, apnea, and desaturation. A distinct aEEG seizure pattern, consisting of a sudden rise of the lower and upper margin of the aEEG, followed by a marked depression of the aEEG amplitude, was found in 8 of the 9 patients. Prompt recognition of this pattern led to early treatment with carbamazepine in the 2 most recent cases.

CONCLUSION: Early recognition of the electroclinical phenotype by using aEEG may direct genetic testing and a precision medicine approach with sodium channel blockers in neonates with KCNQ2 mutations.

Original languageEnglish
Pages (from-to)387-393
Number of pages7
JournalNeonatology
Volume112
Issue number4
DOIs
Publication statusPublished - 2017

Keywords

  • Journal Article

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    Vilan, A., Mendes Ribeiro, J., Striano, P., Weckhuysen, S., Weeke, L. C., Brilstra, E., de Vries, L. S., & Cilio, M. R. (2017). A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations. Neonatology, 112(4), 387-393. https://doi.org/10.1159/000478651