• 대한한방내과학회지
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• 제43권3호
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• pp.460-468
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• 2022

Objective: In this case report, we address the case of a 22-year-old man complaining of generalized tonic-clonic seizures due to drug-resistant epilepsy. Methods: A patient was treated with Korean medicine, including herbal medication, Shihogyeji-tang (SGT), and acupuncture. We evaluated improvements in symptoms using the Korean version of the Epilepsy Self-Efficacy Scale and quality of life. Results: After 37 days of Korean medicine treatment, there were improvements in the patient's quality of life and self-efficacy in seizure control. Conclusions: This case report suggests that SGT and acupuncture might be effective in drug-resistant epilepsy via action on neurons. SGT showed excellent tolerability for drug-resistant epilepsy patients. Our experience provides evidence that SGT and acupunctue may be used as alternative treatment options when antiepileptic drugs do not work in epilepsy patients.

• Annals of Clinical Neurophysiology
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• 제9권2호
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• pp.69-74
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• 2007

Electroencephalogram (EEG) is a representative diagnostic tool in epilepsy. However, there are several points of debate on the role of EEG in diagnosis and management of epilepsy. We suggest that EEG has some limitations for differential diagnosis from nonepileptic episodic diseases, classification of epilepsy, prediction of recurrence, and evaluation of treatment response. Interictal EEG cannot diagnose or exclude epilepsy because interictal epileptic discharge (IED) is frequently absent in epilepsy and can appear in nonepileptic conditions. Although EEG is helpful in classification of epilepsy, focal spikes in generalized epilepsy and secondary bilateral synchrony in localization related epilepsy cause interrater disagreement. It is controversial whether EEG predicts recurrence after the first seizure in adults. The predictive value of EEG in antiepileptic drug (AED) withdrawal is not absolute. The prognosis after AED withdrawal depends on epilepsy syndrome. Many studies could not confirm the value of EEG in assessing the treatment response. After all, epilepsy is clinically diagnosed and assessed. Interictal EEG alone does not provide decisive information and routine follow-up of EEG is not recommended.

• 대한정형외과학회지
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• 제55권3호
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• pp.266-270
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• 2020

뇌전증에 의한 전신 발작 시 발생한 강력한 근육 수축에 의한 근골격계 손상이 발생할 수 있다. 외상 및 기저질환 없이 전신 발작 후 발생한 다발성 흉추 골절에 대한 국외 증례는 많지만 국내의 연구나 증례보고는 없다. 이전에 골다공증이나 특이 질환이 없는 42세 남자 환자의 수면 중 전신 간대성 발작에 의한 다발성 흉추 골절을 진단하였기에 증례를 보고하는 바이다.

• Clinical and Experimental Pediatrics
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• 제55권5호
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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.

• Clinical and Experimental Pediatrics
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• 제49권5호
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• pp.529-532
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• 2006

목 적 : 뇌성마비는 뇌의 여러 가지 원인에 의해 뇌에 발생한 비진행성 손상으로, 이러한 뇌성마비를 가진 환아의 간질 발생 빈도는 15-90%로 다양하게 나타난다. 이렇게 뇌성마비와 간질이 중복 되서 나타나는 경우에 심각한 중복 장애를 남길 수 있다. 따라서 뇌성마비아 중 간질의 발생아와 비발생아의 특징을 비교하여 장기적인 진료 및 예후의 지표를 삼고자 하였다. 방 법 : 1995년부터 2004년까지 9년간 경희의료원 소아과 외래에서 뇌성마비로 진단받고 추적관찰이 가능하였던 93명을 대상으로 조사하였으며, 이들의 뇌성마비를 분류하고, 간질의 형태와 발병 당시의 나이, 뇌영상소견과 뇌파 소견을 비교하였다. 결 과 : 뇌성마비에서의 간질의 유병률은 93명 중 43명으로 46.2%이었으며, 발작의 초 발 연령은 평균 21.5개월로 1세 미만에서 발생한 경우가 21례(48.8%)로 가장 많았고, 1세 미만에서는 영아 연축과 근간대성 발작의 빈도가 의미 있게 높았으며, 전체적으로는 강직성-간대성 발작이 44.2%로 가장 많이 나타났다. 뇌영상소견에서 가장 많이 동반된 이상은 뇌 피질 위축으로 간질 발생군과 비간질 발생군에서 각각 22례(23.6%)와 12례(12.1%)였으며, 뇌파 소견에서는 간질 발생아의 전례에서 이상 소견을 보였다. 결 론 : 뇌성마비아에서 간질이 동반된 경우 어린 나이에 발생하는 경우가 많았으며, 간질의 형태로는 전신성 간대성-강직성 발작이 가장 많았다. 또한 뇌 영상검사와 뇌파검사에서 뇌성마비아 중 간질 발생아와 비간질 발생아에서 의미 있는 빈도 차이를 보여 조기 진단에 도움을 줄 것으로 생각된다.

• 대한예방한의학회지
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• 제14권2호
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• pp.135-148
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• 2010

The major purpose of this study is to evaluate the classification of epileptic seizure types and epilepsy described in the literatures of both Western and East Asian medicine, especially based on the two criteria- a theoretical and a practical aspect of the classification systems. Currently, the 1981 classification of epileptic seizure types, and the 1989 classification of epilepsy syndromes and epilepsies which were proposed and approved by the International League Against Epilepsy(ILAE) have been generally accepted worldwide, although a variety of modifications have been consistently suggested. A large proportion of epilepsy cases cannot be easily classified as either 'focal' or 'generalized' or as either 'symptomatic' or 'idiopathic', so they fail to be precisely fallen into any of the ILAE categories. Terms and concepts used in the East Asian medicine are also inadequate to identify epileptic seizure types and epilepsy syndromes as discrete diagnostic entities because of ambiguities in definition and use. Therefore, this article suggests an alternative approach not only more helpful in understanding mechanism of epilepsy but also more easily applicable and effective in clinical value.

• Annals of Clinical Neurophysiology
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• 제22권2호
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• pp.92-103
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• 2020

Background: The purpose of this study was to identify the top-100 cited articles on genetic generalized epilepsy (GGE) published in journals that have made key contributions to the field of epilepsy. Methods: We searched the Web of Science website produced by Clarivate Analytics for articles on GGE, and sorted them according to the number of citations to identify the top-100 cited articles. We then manually reviewed the contents of the top-100 cited articles, which were designated as "citation classics". Results: The top-100 cited articles were published in 27 journals, with the largest proportion appearing in Epilepsia (19 articles). The articles originated from institutions in 17 countries, with 31 articles from the USA. The institution associated with the largest numbers of articles in the field of GGE was the University of Melbourne, Australia (9 articles). Panayiotopoulos C. P. was the first author of three articles, and was listed most frequently in the GGE citation classics. The publication years were concentrated in the 2000s, when 56 articles were published. The most-common study topics were genetics (35 articles) and neuroimaging (17 articles). Conclusions: This study has identified the top-100 cited articles on GGE. These citation classics represent the landmark articles on GGE, and they provide useful insights into international research leaders and the research trends in the field.

• Annals of Clinical Neurophysiology
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• 제2권1호
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• pp.27-30
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• 2000

Reflex epilepsies are distinct but not clearly understood clinical entity. Various cerebral activities induced by simple stimulation including visual, auditory, somatosensory stimulation, as well as diverse functional tasks such as reading, calculation, complex thinking are believed to be seizure-inducing factors. We experienced two patients whose seizures were readily precipitated by complex, strenuous thinking. Both patients was teen-aged boy at the onset of seizure(13, and 15 years of age each) with normal physical and mental growth. Although first seizure was precipitated by watching TV and playing puzzles in each patient, initial diagnosis was idiopathic generalized epilepsy, possibly juvenile myoclonic epilepsy( JME). For the first few years, seizures were infrequent but mostly precipitated by the tasks needs concentration such as playing computer games, decision-making, mathematics, reading, or during the examination. EEG revealed various thinking process including reading hard books, drawing complex figure, complex calculation induced epileptic discharges even if it usually needs certain period of concentration. Phenytoin, valproic acid, clonazepam, vigabatrin, and lamotrigine sometimes abated their seizures but none of these made them seizure-free. Complex reflex epilepsy induced by thinking was proposed to be a separate type of epilepsy or a variant of JME. Age, sex, stereotypic seizure-inducing factors, clinical course, and refractory epilepsies in these patients highly suggested this type of epilepsy as a variant of JME but its refractoriness and unique provocation still needs more speculation.

• Journal of Genetic Medicine
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• 제21권1호
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• pp.31-35
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• 2024

Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked neurodevelopmental disorder with abnormal thyroid function caused by mutation in the solute carrier family 16 member 2 (SLC16A2) gene. Clinical manifestations of AHDS are global or axial hypotonia, a variety of movement disorders, severe intellectual disability, quadriplegia or spastic diplegia, growth failure, and seizures. A 10-year-old boy visited our hospital with the chief complaint of newly onset generalized tonic seizures with vocalization of weekly to daily frequency. He showed early infantile hypotonia, severe intellectual disability, and frequent respiratory infections. He could not walk independently and was non-verbal. Electroencephalogram revealed generalized slow spike and waves with multifocal spikes and slow background rhythms. His tonic seizures were controlled with more than two anti-seizure medications (ASMs). At 11 years of age, he was evaluated for thyroid function as part of regular screening for ASM maintenance and was found to have abnormal thyroid function. We performed whole exome sequencing for severe global developmental delay, drug-resistant epilepsy, and abnormal thyroid function. The hemizygous c.940C>T (p.Arg314Ter) variant in the SLC16A2 gene (NM_006517.5) was identified and confirmed based on Sanger sequencing. Herein, we describe a case of an AHDS patient with late-onset drug-resistant epilepsy combined with congenital hypotonia, global developmental delay, and abnormal thyroid function results. To the best of our knowledge, this is the oldest adolescent among AHDS cases reported in Korea. In this report, clinical characteristics of a mid-adolescence patient with AHDS were presented.

• Clinical and Experimental Pediatrics
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• 제53권4호
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• pp.565-570
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• 2010

목 적: LTG의 국외에서의 임상 연구는 다양한 발작과 간질증후군에 단일 또는 보조요법으로서 넓은 범위의 작용을 한다고 보고되었다. 국내에서는 아직까지 소아연령에서의 LTG 초기 단일요법에 대한 연구보고가 거의 없다. 이에 저자들은 단일 병원의 전향적 자료 분석을 통한 소아 간질 환자에서의 단일 LTG 약물요법의 효용성과 안정성에 대해 연구하고자 하였다. 방 법: 2002년 9월부터 2009년 6월까지 간질약 복용 병력이 없이 간질로진단 받고 LTG을 복약하였던 소아 환자 148명을 대상으로 전향적 연구를 통해 효용성과 안정성을 연구하였다. 결 과: 대상 환아 중 초기 단일 요법으로 LTG을 복용 후 최소 6개월간 외래 추적 관찰했을 때 발작이 전혀 없었던 환아(완전 관해군)는 87명(78.4%, n=111)이었고 발작 감소를 보인 환아(부분 관해군)는 13명(11.7%), 발작이 이전과 같은 빈도이거나 오히려 악화된 경우(발작 지속군)는 11명(9.9%)이었고 부작용인 피부발진과 틱 장애로 LTG복약을 중지해야만 했던 환아가 8명이었다. 발작의 유형에 따른 치료 결과는 완전 관해군을 기준으로 할 때 부분 간질에서 전신간질보다 발작 완해률이 81.6% vs 44.8 %로 더 높았다(${\kappa}^2$=26.75, $P$<0.05). 발작 유형별로는 각각 CPS가 41명(75.9%, n=54), BRE가 30명(90.9%, n=33) absence seizure가 3명(30.0%, n=10) JME가 5명(35.7%, n=14), IGE가 5명(100.0%, n=5)으로 완전 관해 되었고 IGE와 BRE에서 완전 관해률이 각각 100.0%, 90.9%로 높았다. 투약 기간 중 부작용이 관찰된 환아는 모두 17명(14.3%, n=119)이었다. 피부 발진이 11명, 틱 장애가 3명, 간염이 1명, 결막염이 1명, 졸림이 1명에서 관찰되었고 피부 발진이 생긴 환아 11명 중 7명은 발진이 심하여, 1명은 틱 증상이 심하여 투약을 중지하였다. Stevens-Johonson 증후군 같은 심각한 부작용이 생겼던 환아는 없었다. 결 론: 본 연구 결과 LTG 초기 단일요법의 효용성은 국외 보고와 비교하여 우수하거나 큰 차이가 없었으며, 위중한 부작용 사례는 없었다. 소아 간질 환자, 특히 양성 로란딕 간질 환자와 특발성 전신발작 환자에서 LTG의 초기 단일 요법 치료에 매우 우수한 것으로 사료되어 문헌 고찰과 함께 보고하는 바이다.