Ictal and interictal electroencephalographic findings can contribute to early diagnosis and prompt treatment in KCNQ2-associated epileptic encephalopathy
| Autor: | Jao-Shwann Liang, Tung-Ming Chang, Inn-Chi Lee, Ming-Yuh Chang |
|---|---|
| Rok vydání: | 2020 |
| Předmět: |
Electroencephalography
Genetic epilepsy aEEG 03 medical and health sciences Epilepsy 0302 clinical medicine Seizures medicine Humans KCNQ2 Potassium Channel Ictal EEG Child KCNQ2 lcsh:R5-920 medicine.diagnostic_test business.industry Epileptic encephalopathy Contralateral hemisphere Infant Newborn General Medicine medicine.disease Early Diagnosis 030220 oncology & carcinogenesis Anesthesia Etiology 030211 gastroenterology & hepatology Anticonvulsants business lcsh:Medicine (General) Eeg monitoring |
| Zdroj: | Journal of the Formosan Medical Association, Vol 120, Iss 1, Pp 744-754 (2021) |
| ISSN: | 0929-6646 |
| Popis: | 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 (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. |
| Databáze: | OpenAIRE |
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