|
KMID : 1031120210110020127
|
|
Journal of Epilepsy Research
2021 Volume.11 No. 2 p.127 ~ p.135
|
|
|
The Role of Focal Epilepsy Features in Defining SCN1A Mutation-positive Dravet Syndrome as Generalized and Focal Epilepsy
|
|
Ko Young-Jun
Yoo Il-Han
Lee Ji-Won
Lee Jee-Hun
Yum Mi-Sun
Ko Tae-Sung
Kim Hun-Min
Hwang Hee
Kim Soo-Yeon
Chae Jong-Hee
Choi Ji-Eun
Kim Ki-Joong
Lim Byung-Chan
|
|
|
Abstract
|
|
|
Background and Purpose: 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.
|
|
|
KEYWORD
|
|
|
Dravet syndrome, SCN1A, Generalized epilepsy, Partial epilepsies
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|