In:
Neonatology, S. Karger AG, Vol. 112, No. 4 ( 2017), p. 387-393
Abstract:
〈 b 〉 〈 i 〉 Background: 〈 /i 〉 〈 /b 〉 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 〈 b 〉 〈 /b 〉 of the workup and management of neonatal seizures. 〈 b 〉 〈 i 〉 Objective: 〈 /i 〉 〈 /b 〉 To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy. 〈 b 〉 〈 i 〉 Subjects and Methods: 〈 /i 〉 〈 /b 〉 In this multicenter descriptive study, clinical data and aEEG findings of 9 newborns with 〈 i 〉 KCNQ2 〈 /i 〉 mutations are reported. 〈 b 〉 〈 i 〉 Results: 〈 /i 〉 〈 /b 〉 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. 〈 b 〉 〈 i 〉 Conclusion: 〈 /i 〉 〈 /b 〉 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 〈 i 〉 KCNQ2 〈 /i 〉 mutations.
Type of Medium:
Online Resource
ISSN:
1661-7800
,
1661-7819
Language:
English
Publisher:
S. Karger AG
Publication Date:
2017
detail.hit.zdb_id:
2403535-X
SSG:
12
Permalink
