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

9 Citations (Scopus)

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

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Electroencephalography
Epilepsy
Stroke
Newborn Infant
Seizures
Mutation
Sodium Channel Blockers
Precision Medicine
Carbamazepine
Genetic Testing
Apnea
Multicenter Studies
Phenotype
Brain
Therapeutics

Keywords

  • Journal Article

Cite this

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations. / Vilan, Ana; Mendes Ribeiro, José; Striano, Pasquale; Weckhuysen, Sarah; Weeke, Lauren C; Brilstra, Eva; de Vries, Linda S; Cilio, Maria Roberta.

In: Neonatology, Vol. 112, No. 4, 2017, p. 387-393.

Research output: Contribution to journalArticle

Vilan, A, Mendes Ribeiro, J, Striano, P, Weckhuysen, S, Weeke, LC, Brilstra, E, de Vries, LS & Cilio, MR 2017, 'A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations', Neonatology, vol. 112, no. 4, pp. 387-393. https://doi.org/10.1159/000478651
Vilan, Ana ; Mendes Ribeiro, José ; Striano, Pasquale ; Weckhuysen, Sarah ; Weeke, Lauren C ; Brilstra, Eva ; de Vries, Linda S ; Cilio, Maria Roberta. / A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations. In: Neonatology. 2017 ; Vol. 112, No. 4. pp. 387-393.
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AU - Weeke, Lauren C

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N2 - 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.

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