The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy
DC Field | Value | Language |
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dc.contributor.author | Ko, Young Jun | - |
dc.contributor.author | Yoo, Il Han | - |
dc.contributor.author | Lee, Jiwon | - |
dc.contributor.author | Lee, Jeehun | - |
dc.contributor.author | Yum, Mi-Sun | - |
dc.contributor.author | Ko, Tae-Sung | - |
dc.contributor.author | Kim, Hunmin | - |
dc.contributor.author | Hwang, Hee | - |
dc.contributor.author | Kim, Soo Yeon | - |
dc.contributor.author | Chae, Jong-Hee | - |
dc.contributor.author | Choi, Ji-Eun | - |
dc.contributor.author | Kim, Ki Joong | - |
dc.contributor.author | Lim, Byung Chan | - |
dc.date.accessioned | 2024-07-05T02:30:33Z | - |
dc.date.available | 2024-07-05T02:30:33Z | - |
dc.date.issued | 2021-12 | - |
dc.identifier.issn | 2233-6249 | - |
dc.identifier.issn | 2233-6257 | - |
dc.identifier.uri | https://scholarworks.bwise.kr/cau/handle/2019.sw.cau/74612 | - |
dc.description.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. | - |
dc.format.extent | 9 | - |
dc.language | 영어 | - |
dc.language.iso | ENG | - |
dc.title | The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy | - |
dc.type | Article | - |
dc.identifier.doi | 10.14581/jer.21019 | - |
dc.identifier.bibliographicCitation | Journal of epilepsy research, v.11, no.2, pp 127 - 135 | - |
dc.description.isOpenAccess | Y | - |
dc.citation.endPage | 135 | - |
dc.citation.number | 2 | - |
dc.citation.startPage | 127 | - |
dc.citation.title | Journal of epilepsy research | - |
dc.citation.volume | 11 | - |
dc.type.docType | Journal Article | - |
dc.subject.keywordAuthor | Dravet syndrome | - |
dc.subject.keywordAuthor | Generalized epilepsy | - |
dc.subject.keywordAuthor | Partial epilepsies | - |
dc.subject.keywordAuthor | SCN1A | - |
dc.description.journalRegisteredClass | foreign | - |
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