• 동의생리병리학회지
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• 제21권3호
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• pp.785-788
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• 2007

Chun-Kwang(癲狂) is a oriental medical term which has psychosis or similar symptoms. It is similar to schizophrenia or bipolar disorder in western medicine. Recently we have treated a patient with Chun-Kwang showed psychomotor epilepsy symptoms. He usually has gotten vertigo in the morning, and then suffered from hallucinations. There was no evidence of organic abnormality in the brain. We treated the patient with oriental medical therapy. The result of treatment was effective partially.

• Clinical and Experimental Pediatrics
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• 제61권4호
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• pp.101-107
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• 2018

Recent advances in genetics have determined that a number of epilepsy syndromes that occur in the first year of life are associated with genetic etiologies. These syndromes range from benign familial epilepsy syndromes to early-onset epileptic encephalopathies that lead to poor prognoses and severe psychomotor retardation. An early genetic diagnosis can save time and overall cost by reducing the amount of time and resources expended to reach a diagnosis. Furthermore, a genetic diagnosis can provide accurate prognostic information and, in certain cases, enable targeted therapy. Here, several early infantile epilepsy syndromes with strong genetic associations are briefly reviewed, and their genotype-phenotype correlations are summarized. Because the clinical presentations of these disorders frequently overlap and have heterogeneous genetic causes, next-generation sequencing (NGS)-based gene panel testing represents a more powerful diagnostic tool than single gene testing. As genetic information accumulates, genetic testing will likely play an increasingly important role in diagnosing pediatric epilepsy. However, the efforts of clinicians to classify phenotypes in nondiagnosed patients and improve their ability to interpret genetic variants remain important in the NGS era.

• 농촌의학ㆍ지역보건
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• 제4권1호
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• pp.41-61
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• 1979

Two interview surveys (1976 for 800 patients, 1978 for 200 patients) and an inventory survey through medical records(1978) for epileptic patients who have registered with the Korean Epilepsy Association (Rose Club) since 1971 were carried out by trained health workers in advance of survey. The data obtained from the analysis showed as follows: 1) 35.2% of patients were born in Seoul and 70. 6% of patients born elsewhere have lived in Seoul. 2) 50-60% of patients were 15-30 years cid. 3) 33.4%, 24,6 and 24.6 of all pupils and students went to elementary, junior and senior high schools respectively. 4) 21.2% of all pupils and students had dropped out of school and 51.4% of them were away from school because of epilepsy. 5) 3.1% of all patients had no job at all and students comprised 20.9% of patients followed by clerical work, commercial business and farming with about 6% in each group.6) Reasons given for unemployment such as dismissal (4.3%), quit (27.7%), hesitation to employ (42.5%)and discontinuance of job (25.5%) were basically due to epilepsy. 7) About half(46.2%) of all patients have become Christian since the Rose Club was a voluntary agency which has been sponsored by Christians. 8) 82. 6% of patients were diagnosed as having grand mal as the most. 9) 29.4% of patients explained aura with psychomotor disturbances and 13.8% with sensory disorders. 10) 46.3% of patients were attacked with seizures when they were tired and others(11.6% and 4.9%) after excessive eating and hunger. 11) Patients suffered more seizures in spring and summer rather than in autumn and winter and most patients had attacks 1-5 times a month. 12) For etiologic reasons of epilepsy, 35.5% of patients considered it was caused by psychological stress and 11.5% by trauma. Only 1.1% of patients considered it as having hereditary components. 13) 51% of patients were slow in caring for their own illnesses. They started to reat epilepsy after spending 5 years of time from the initial seizure. Only 5.4% of patients had received the modern anti-epileptic therapy right after the nitial seizure. 14) 62.1% of patients had no therapy or irregular or incomplete treatment before registration at the Rose Club Clinic. 15) Before registration at the Rose Club, 42.4% of patients received medical care. On the other hand, 25.6% went to herb doctors and 12.5% used to go to the drugstore in order to get anti-epileptic drugs. 16) 41. 6% of patients who took anti-epileptic drugs had more or less side-effects. Indigestion was the most common. 17) For continuation of treatment, 30.3% have received treatment for more than 5 years and the evident showed that epilepsy took a longer time to be cured. 18) Regarding the medical care received 44.2% of patients were very satisfied with effective care and 26.5% felt as good. 19) For attitudes toward epilepsy. 27.0% of patients and 68.2% of patients family were pessimistic. 20) 65.9% of patients had optimistic attitudes toward effectiveness of medical care of epilepsy. 21) 64.8% of wives and husbands had better understanding and cooperative for their spouses who had epilepsy. 22) 33.3% of patients were under-treated at the place of work. 23) 70.2% of patients wished to marry when they reach childbearing age and 63% wished to have children. Through the above results it is recommended for nation-wide epilepsy control that the sound and correct health education not only from health aspect but also from welfare aspect should be planned and implemented as soon as possible.

• Journal of Interdisciplinary Genomics
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• 제5권1호
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• pp.5-11
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• 2023

β-ureidopropionase (β-UP) is an enzyme that catalyzes the final step in the pyrimidine degradation pathway, which converts β-ureidopropionate and β-ureidoisobutyrate into β-alanine and β-aminoisobutyrate, respectively. β-UP deficiency (UPB1D; OMIM # 613161) is an extremely rare autosomal recessive inborn error disease caused by a mutation in the UPB1 gene on chromosome 22q11. To date, approximately 40 cases of UPB1D have been reported worldwide, including one case in Korea. The clinical manifestations of patients with UPB1D are known to be diverse, with a very wide range of manifestations being previously reported; these manifestations include completely asymptomatic, urogenital and colorectal anomalies, or severe neurological involvement, including global developmental delay, microcephaly, early onset psychomotor retardation with dysmorphic features, epilepsy, optic atrophy, retinitis pigmentosa, severely delayed myelination, and cerebellar hypoplasia. Currently, diagnosis of UPB1D is challenging as neurological manifestations, MRI abnormalities, and biochemical analysis for pyrimidine metabolites in the urine, plasma, and cerebrospinal fluid also need to be confirmed by UPB1 gene mutations. Overall, treatment of patients with UPB1D is palliative as there is still no definitive curative treatment available.

• Clinical and Experimental Pediatrics
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• 제48권7호
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• pp.753-759
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• 2005

목 적 : 소아에서 위장관염에 동반된 경련의 발생은 오래 전부터 알려져 왔으나 국내에서는 이에 관한 임상보고가 최근에 추가적으로 발표되고 있다. 저자들은 위장관염과 함께 무열성 경련을 보였던 환아들을 대상으로 하여 이의 임상적 특징 고찰과 발작간기 뇌파를 통해 이 질환의 전기 생리학적인 특징을 규명함으로서 향후 이 질환의 간질 증후군 분류와 진단, 치료 및 예후 예측에 도움이 되고자 하였다. 방 법 : 2001년 1월 1일부터 2004년 6월 30일까지 3년 6개월 동안 급성 위장관염으로 분당차병원 소아과에 입원하여 치료받은 환아 중 과거 신경질환이나 발달 이상의 병력이 없으면서 전해질 이상 및 저혈당에 의하지 않는 무열성 경련이 관찰되었던 67례를 연구대상으로 하였다. 결 과 : 급성 위장관염 입원 환아 2,887례 중 67례(2.3%)에서 무열성 경련이 관찰되었고 대상 환아의 연령은 1개월에서 42개월 사이($18.5{\pm}6.1$)이며 남아가 32례, 여아가 35례이었다. 경련 양상은 전신 강직-간대 발작은 51례(76.1%), 전신 강직 발작은 16례(23.9%) 형태였고 평균 경련시간은 2.8분(20초-40분), 입원 기간동안 평균 경련 횟수는 3.1회(1-13회)이었으나 경련 전후의 신경학적 이상 소견은 관찰되지 않았다. 항경련제는 42례(62.7%)에서 사용되었으며 이 중 23례에서는 2가지 이상의 항경련제 사용 후에 경련이 조절되었다. 뇌척수액 검사는 54례에서 시행되었으며 모두 정상이었고, 15례에서 시행된 뇌영상 검사는 모두 정상이었다. 49례에서 시행한 대변 배양 검사 상 세균은 자라지 않았으며, 로타바이러스는 62례 중 51례(82.3%), 노로바이러스는 18례 중 2례, 아스트로바이러스는 18례 중 1례에서 양성반응을 보였다. 대상 환아에서 시행한 총 73례의 발작간기 뇌파에서 49례(67.1%)는 정상 소견을 보였으나 24례(32.9%)에서는 두정위 일과성 예파(vertex sharp transient)와 구분되는 극파 또는 예파가 수면 I-II기에 중심부에서 관찰되었고 이 중 추적뇌파가 가능했던 6례에서 3례는 정상화가 되었으나 3례에서는 저진폭의 비정형적인 극파나 예파가 지속되었다. 퇴원 후 추적조사는 58례(86.6%)에서 시행되었고 최대 36개월까지 모두 신경학적 후유증없이 정상적인 발달을 보였다. 결 론 : 급성 위장관염과 동반된 양성 무열성 경련은 정상발달을 보이며 건강하던 영유아에서 일회성 또는 다발성으로 발생하며 전해질, 혈당, 뇌척수액 등의 검사가 정상이고, 일부에서는 일시적으로 중심부에서 극파 또는 예파를 보이지만 추적 검사 시에는 정상 또는 호전되는 소견을 나타내며 양성 경과를 취한다. 따라서 이 질환군은 간질 증후군 중 특별 증후군으로 분류될 것으로 예상된다. 또한 정상 발달을 보이는 영유아에서 급성 위장관염과 함께 무열성 경련이 발생하는 경우 반드시 이 질환군을 고려하여야 하며 보호자를 안심시키고, 장기간의 과다한 항경련제 투여와 불필요한 방사선 검사를 피하는 등 그 진단과 치료가 선택적으로 이루어져야 한다.