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

• Type: Article in International Scientific Journal
• Date: 2017

Authors

Ana Lopes (Author) FMUP; Ribeiro, JM (Author) Other; Striano, P (Author) Other; Weckhuysen, S (Author) Other; Weeke, LC (Author) Other; Brilstra, E (Author) Other; de Vries, LS (Author) Other; Cilio, MR (Author) Other

Journal

Title: Neonatology

Vol. 112

Pages: 387-393

ISSN: 1661-7800

Publisher: Karger

Indexing

ISI Web of Knowledge - 5 Citations

Other information

Authenticus ID: P-00N-6JV

DOI: 10.1159/000478651

Abstract (EN): 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. (C) 2017 S. Karger AG, Basel

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 7