• Clinical and Experimental Pediatrics
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• v.55 no.5
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• pp.171-176
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• 2012

Purpose: The aim of this study was to investigate the natural history of epilepsy and response to anti-epileptic drug treatment in patients with Angelman syndrome (AS) in Korea. Methods: We retrospectively reviewed the clinical records of 14 patients diagnosed with epilepsy out of a total of 17 patients with a genetic diagnosis of AS. These patients were seen at the Department of Pediatric Neurology at Severance Children's Hospital from March 2005 to March 2011. Results: Fourteen (9 males and 5 females) subjects (82.3%) were diagnosed with epilepsy in AS. The most common seizure types were generalized tonic-clonic (n=9, 27%) and myoclonic (n=9, 27%), followed by atonic (n=8, 24%), atypical absence (n=4, 12%) and complex partial seizure (n=3, 9%). The most commonly prescribed antiepileptic drug (AED) was valproic acid (VPA, n=12, 86%), followed by lamotrigine (LTG, n=9, 64%), and topiramate (n=8, 57%). According to questionnaires that determined whether each AED was efficacious or not, VPA had the highest response rate and LTG was associated with the highest rate of seizure exacerbation. Complete control of seizures was achieved in 6 patients. Partial control was achieved in 7 patients, while one patient was not controlled. Conclusion: Epilepsy is observed in the great majority of AS patients. It may have early onset and is often refractory to treatment. There are few reports about epilepsy in AS in Korea. This study will be helpful in understanding epilepsy in AS in Korea.

• Genes and Genomics
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• v.40 no.11
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• pp.1149-1155
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• 2018

Epileptic encephalopathies are genetically heterogeneous disorders which leads to epilepsy and cause neurological disorders. Seizure threshold 2 (SZT2) gene located on chromosome 1p34.2 encodes protein mainly expressed predominantly in the parietal and frontal cortex and dorsal root ganglia in the brain. Previous studies in mice showed that mutation in this gene can confers low seizure threshold, enhance epileptogenesis and in human may leads to facial dysmorphism, intellectual disability, seizure and macrocephaly. Objective of this study was to find out novel gene or novel mutation related to the gene phenotype. We have identified a large consanguineous Saudi family segregating developmental delay, intellectual disability, epilepsy, high forehead and macrocephaly. Exome sequencing was performed in affected siblings of the family to study the novel mutation. Whole exome sequencing data analysis, confirmed by subsequent Sanger sequencing validation study. Our results showed a novel homozygous mutation (c.9368G>A) in a substitution of a conserved glycine residue into a glutamic acid in the exon 67 of SZT2 gene. The mutation was ruled out in 100 unrelated healthy controls. The missense variant has not yet been reported as pathogenic in literature or variant databases. In conclusion, the here detected homozygous SZT2 variant might be the causative mutation that further explain epilepsy and developmental delay in this Saudi family.

• Journal of Korean Neurosurgical Society
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• v.62 no.3
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• pp.353-360
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• 2019

Epilepsy surgery that eliminates the epileptogenic focus or disconnects the epileptic network has the potential to significantly improve seizure control in patients with medically intractable epilepsy. Magnetic resonance-guided laser interstitial thermal therapy (MRgLITT) has been an established option for epilepsy surgery since the US Food and Drug Administration cleared the use of MRgLITT in neurosurgery in 2007. MRgLITT is an ablative stereotactic procedure utilizing heat that is converted from laser energy, and the temperature of the tissue is monitored in real-time by MR thermography. Real-time quantitative thermal monitoring enables titration of laser energy for cellular injury, and it also estimates the extent of tissue damage. MRgLITT is applicable for lesion ablation in cases that the epileptogenic foci are localized and/or deep-seated such as in the mesial temporal lobe epilepsy and hypothalamic hamartoma. Seizure-free outcomes after MRgLITT are comparable to those of open surgery in well-selected patients such as those with mesial temporal sclerosis. Particularly in patients with hypothalamic hamartoma. In addition, MRgLITT can also be applied to ablate multiple discrete lesions of focal cortical dysplasia and tuberous sclerosis complex without the need for multiple craniotomies, as well as disconnection surgery such as corpus callosotomy. Careful planning of the target, the optimal trajectory of the laser probe, and the appropriate parameters for energy delivery are paramount to improve the seizure outcome and to reduce the complication caused by the thermal damage to the surrounding critical structures.

• Journal of Ginseng Research
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• v.47 no.3
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• pp.390-399
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• 2023

Background: Gintonin (GT), a Panax ginseng-derived lysophosphatidic acid receptor (LPAR) ligand, has positive effects in cultured or animal models for Parkinson's disease, Huntington's disease, and so on. However, the potential therapeutic value of GT in treating epilepsy has not yet been reported. Methods: Effects of GT on epileptic seizure (seizure) in kainic acid [KA, 55mg/kg, intraperitoneal (i.p.)]-induced model of mice, excitotoxic (hippocampal) cell death in KA [0.2 ㎍, intracerebroventricular (i.c.v.)]-induced model of mice, and levels of proinflammatory mediators in lipopolysaccharide (LPS)-induced BV2 cells were investigated. Results: An i.p. injection of KA into mice produced typical seizure. However, it was significantly alleviated by oral administration of GT in a dose-dependent manner. An i.c.v. injection of KA produced typical hippocampal cell death, whereas it was significantly ameliorated by administration of GT, which was related to reduced levels of neuroglial (microglia and astrocyte) activation and proinflammatory cytokines/enzymes expression as well as increased level of the Nrf2-antioxidant response via the upregulation of LPAR 1/3 in the hippocampus. However, these positive effects of GT were neutralized by an i.p. injection of Ki16425, an antagonist of LPA1-3. GT also reduced protein expression level of inducible nitric-oxide synthase, a representative proinflammatory enzyme, in LPS-induced BV2 cells. Treatment with conditioned medium clearly reduced cultured HT-22 cell death. Conclusion: Taken together, these results suggest that GT may suppress KA-induced seizures and excitotoxic events in the hippocampus through its anti-inflammatory and antioxidant activities by activating LPA signaling. Thus, GT has a therapeutic potential to treat epilepsy.

• Journal of the Korean Child Neurology Society
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• v.26 no.4
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• pp.205-209
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• 2018

Purpose: Several studies have shown that magnesium plays an important role in modulating N-methyl-D-aspartate (NMDA)-related seizures by blocking NMDA ion channel receptors. Clinicians usually measure total serum magnesium levels instead of biologically active ionized magnesium levels. We compared the serum ionized magnesium ($iMg^{2+}$) level between epileptic children with and without a history of fever-triggered seizure (FTS). Methods: All epileptic children who visited the outpatient clinic or pediatric emergency department at Korea University Guro Hospital between January 2015 and July 2017 were included. Only epileptic children aged 1-8 years who were newly diagnosed within 2 years were included. Results: There were 12 children with FTS and 16 without FTS. Median serum $iMg^{2+}$ level was 0.93 (0.85-1.14, quartile) mEq/L. Serum $iMg^{2+}$ level was significantly lower in epileptic children with FTS (0.86 mEq/L) compared to those without FTS (1.10 mEq/L) (P=0.005). No difference was noted in clinical variables between the two groups. Lower serum $iMg^{2+}$ level significantly increased the risk of having FTS in epileptic children based on multivariable logistic regression analysis (odds ratio [OR]=0.028). Conclusion: Serum $iMg^{2+}$ level was significantly lower in epileptic children with FTS than in those without FTS. Measurement of biologically active serum $iMg^{2+}$ level could be considered in epileptic children with recurrent FTS. A large-scale prospective study is warranted.

• Clinical and Experimental Pediatrics
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• v.52 no.9
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• pp.1005-1014
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• 2009

Purpose:Epilepsy of child may cause high level of psychosocial difficulties for parents including stigmatization and stress and therefore worsen their quality of life (QOL). The purpose of this study was to evaluate the mediating effect of perceived stigma against epilepsy on QOL among parents with epileptic child. Methods:Two hundred and sixty parents of epileptic child recruited from five separated university hospital child neurology clinics specializing in epilepsy completed a demographic questionnaire, a medical questionnaire, a perceived stigma questionnaire and the Ro's Quality of Life Inventory, a popular tool for evaluating QOL of adults in Korea which is composed of 6 domains and 47 questions. Data was analyzed with SPSS 14.0 program using frequency analysis and descriptive analysis and with AMOS 7.0 program using Structural Equation Model (SEM) analysis. Results:The level of parents' QOL was relatively fair. SEM analysis on the quality of life level of parents showed that all variables (especially having religion, the monthly income, employment state, age of child, the leisure time, the perceived stigma level against epilepsy, and seizure frequency) directly affect the quality of life level of parents and that disease-related variables also affect the quality of life level of parents indirectly through the mediating factor (the perceived stigma), where the indirect effect is large with the existence of combined disabilities. The total effect on the quality of life level of parents is large with the existence of combined disabilities, the perceived stigma level, the leisure time, having religion, and the monthly income. Conclusion:The results of this study indicated that many factors including parents' perceived stigma may affect the quality of life of parents with epileptic children directly, and that some disease-related factors may affect indirectly through a mediating factor, the perceived stigma. Multidisciplinary collaboration would be imperative for their welfare.

• Journal of Biomedical Engineering Research
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• v.20 no.6
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• pp.555-560
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• 1999

간질은 신경세포의 일부가 짧은 시간동안 과도한 전기를 발생시킴으로써 일어나는 신경계의 발작적 증상으로 배경 활동파와는 구별되는 극파, 예파, 예파와 서파를 동반한 극서파 복합(sharp and slow complexes)의 뇌파 특징파를 갖는다. 장시간의 뇌파기록에서 시간의 절약과, 정량화를 위해 컴퓨터를 이용한 간질 파형의 자동 검출은 객관성을 높이고 정량적인 해석을 위해 필수적이다. 본 연구에서는 간질 뇌파를 검출하기 위해 웨이브렛 변환과 신경망을 사용하였다. 웨이브렛 변환은 잡음을 제거하고 간질 뇌파의 특징을 강조하며 신경망의 입력노드수를 줄였다. 전문가에 의해서 분류된 간질특성과 정상뇌파를 신경망에 입력시켜 최적의 신경망구조를 선택하였고, 검출 문턱치를 설정하였다. 신경망은 200ms(26개의 데이터포인트)신호의 웨이브렛 결과와 웨이브렛 변환후 데이터 상의 최대, 최소 기울기가 입력되어 전체 28개의 입력 노드로 구성하였다. 은닉층은 18노드, 문턱치값은 민감도와 선택도가 일치하는 0.65가 사용되었다. 결과로 임상 환자 데이터에 입력되어 78.54% 의 검출률을 보였다.

• Journal of the Korean Data and Information Science Society
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• v.28 no.4
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• pp.927-936
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• 2017

To analyze longitudinal count data, Poisson linear mixed models are commonly used. In the models the random effects covariance matrix explains both within-subject variation and serial correlation of repeated count outcomes. When the random effects covariance matrix is assumed to be misspecified, the estimates of covariates effects can be biased. Therefore, we propose reasonable and flexible structures of the covariance matrix using autoregressive and moving average Cholesky decomposition (ARMACD). The ARMACD factors the covariance matrix into generalized autoregressive parameters (GARPs), generalized moving average parameters (GMAPs) and innovation variances (IVs). Positive IVs guarantee the positive-definiteness of the covariance matrix. In this paper, we use the ARMACD to model the random effects covariance matrix in Poisson loglinear mixed models. We analyze epileptic seizure data using our proposed model.

• Journal of Genetic Medicine
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• v.18 no.1
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• pp.44-47
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• 2021

Cerebral creatine deficiency syndrome (CCDS) is a disorder where a defect is present in transport of creatine in the brain. Creatine plays an essential role in the energy metabolism of the brain. This is a genetic disorder, autosomal recessive or X linked, characterized by intellectual disability, speech and language delay, epilepsy, hypotonia, etc. Until recently very few number of cases have been reported. Here we report a case of 1.5-year-old boy who had epilepsy (epileptic spasm and generalized tonic clonic seizure), intellectual disability, microcephaly, hypotonia and speech delay. His magnetic resonance imaging of brain showed cortical atrophy and electroencephalography showed burst suppression pattern. The diagnosis was confirmed by clinical exome sequencing which showed novel mutation of SLC6A8+ in exon 9, suggestive of X linked recessive CCDS. The patient was then treated with glycine, L-arginine and creatine monohydrate with multiple antiepileptic drugs.

• Clinics in Shoulder and Elbow
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• v.25 no.1
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• pp.65-67
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• 2022

Pure anterior bilateral shoulder dislocations are rare clinical features, especially in traumatic forms. They are most often posterior, occurring during an epileptic seizure. Few cases are described in the literature, and the mechanism varies from case to case. We report a specific case of pure bilateral anterior shoulder dislocation in a 29-year-old judo player following an accident during his training and discuss the circumstances, mechanism, treatment, and prognosis.