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.
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 aEEGseizure 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.
Authors: Greta Amore; Ambra Butera; Giulia Spoto; Giulia Valentini; Maria Concetta Saia; Vincenzo Salpietro; Francesco Calì; Gabriella Di Rosa; Antonio Gennaro Nicotera Journal: Front Neurol Date: 2022-03-25 Impact factor: 4.003
Authors: John J Millichap; Cynthia L Harden; Dennis J Dlugos; Jacqueline A French; Noam N Butterfield; Celene Grayson; Ernesto Aycardi; Simon N Pimstone Journal: Epilepsia Open Date: 2021-01-29