Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy.
| Autor: | Lee IC; Division of Pediatric Neurology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan; Institute of Medicine, School of Medicine, Chung Shan Medical University, Taichung, Taiwan. Electronic address: y610@mercury.csmu.edu.tw., Chang MY; Department of Pediatric Neurology, Changhua Christian Children's Hospital Changhua, Taiwan., Liang JS; Department of Pediatrics, Far Eastern Memorial Hospital, New Taipei City, Taiwan., Chang TM; Department of Pediatric Neurology, Changhua Christian Children's Hospital Changhua, Taiwan; School of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. |
|---|---|
| Jazyk: | angličtina |
| Zdroj: | Journal of the Formosan Medical Association = Taiwan yi zhi [J Formos Med Assoc] 2021 Jan; Vol. 120 (1 Pt 3), pp. 744-754. Date of Electronic Publication: 2020 Aug 27. |
| DOI: | 10.1016/j.jfma.2020.08.014 |
| Abstrakt: | Background: KCNQ2-associated epilepsy is most common in neonatal genetic epilepsy. A prompt diagnosis to initialize early treatment is important. Methods: We studied the electroencephalographic (EEG) changes including automated EEGs and conventional EEGs monitoring of 10 nonconsanguineous cases with KCNQ2 mutations, identified among 162 (6%) childhood epilepsy. We compared 11 (25%) non-KCNQ2 seizures videoed from 44 automated EEG and EEG monitoring. Results: Patients with KCNQ2 seizures had received more antiepileptic treatments than patients in non-KCNQ2 group. Seizures were detected in all patients with KCNQ2 epileptic encephalopathy (EE); the detection rate in KCNQ2 group was more than in patients with non-KCNQ2. The ictal recordings showed 3 newborns presented with initial lower amplitudes (<15 μV) and fast activity (>20 Hz), evolving into higher-amplitude theta-delta waves. Two patient's ictal seizures showed recurrent focal tonic movements of the unilateral limbs associated with slowly continuous spikes in the contralateral hemisphere. The interictal EEGs in 5 KCNQ2 EE were burst-suppression. In 5 patients with familial KCNQ2 mutations, the interictal EEGs showed focal paroxysmal activity. Compared with 11 non-KCNQ2 EEG of ictal seizures, the differences are ictal EEGs initially appeared manifesting theta-delta waves without fast activities. In KCNQ2 seizures, patients with mutations locating in the selectivity filter controlling K + permeability had severe EEG patterns and poor neurodevelopmental outcomes. Conclusion: Ictal EEGs in KCNQ2 seizures are unique and different from the EEGs of seizures with other etiologies. An EEG monitoring can be a valuable tool for early diagnosing KCNQ2-associated seizures and for supporting prompt treatments. Competing Interests: Declaration of Competing Interest The authors have no conflicts of interest relevant to this article. (Copyright © 2020. Published by Elsevier B.V.) |
| Databáze: | MEDLINE |
| Externí odkaz: |
|