The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsyopen access
- Authors
- Ko, Young Jun; Yoo, Il Han; Lee, Jiwon; Lee, Jeehun; Yum, Mi-Sun; Ko, Tae-Sung; Kim, Hunmin; Hwang, Hee; Kim, Soo Yeon; Chae, Jong-Hee; Choi, Ji-Eun; Kim, Ki Joong; Lim, Byung Chan
- Issue Date
- Dec-2021
- Keywords
- Dravet syndrome; Generalized epilepsy; Partial epilepsies; SCN1A
- Citation
- Journal of epilepsy research, v.11, no.2, pp 127 - 135
- Pages
- 9
- Journal Title
- Journal of epilepsy research
- Volume
- 11
- Number
- 2
- Start Page
- 127
- End Page
- 135
- URI
- https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74612
- DOI
- 10.14581/jer.21019
- ISSN
- 2233-6249
2233-6257
- Abstract
- OBJECTIVE: This study was aimed to describe focal epilepsy features of SCN1A mutation-positive Dravet syndrome patients. METHODS: A total of 82 SCN1A mutation-positive patients were reviewed retrospectively (39 boys and 43 girls). Seizure type and electroencephalography (EEG) findings were investigated according to the stage, disease onset, and steady state (after age 2 years). Long-term video EEG data were used to classify the seizure type. RESULTS: Focal seizures at onset and the steady state were found in 54.9% (45/82) and 90% (63/70) of patients, respectively. Afebrile focal seizures were an initial seizure in about one fourth of the patients (22/82, 26.8%). Of 48 seizures captured during long-term video EEG monitoring of 30 patients, 19 seizures were classified as focal onset (39.6%). Of the 19 focal seizures, 12 were either focal motor or focal non-motor seizures, and seven were focal onset bilateral tonic-clonic seizure. Focal epileptiform discharges were more frequent than generalized epileptiform discharges at seizure onset and during the clinical course on conventional EEG (3.7% vs. 0%, 52.9% vs. 32.9%, respectively). CONCLUSIONS: Our study provides a comprehensive description of focal epilepsy features of SCN1A mutation-positive Dravet syndrome patients. Recognizing these features as defining the clinical spectrum of Dravet syndrome may lead to earlier genetic diagnosis and tailored management. Copyright © 2021 Korean Epilepsy Society.
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