• Journal of Physiology & Pathology in Korean Medicine
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• v.21 no.3
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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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• v.61 no.4
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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.

• Journal of agricultural medicine and community health
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• v.4 no.1
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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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• v.5 no.1
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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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• v.48 no.7
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• pp.753-759
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• 2005

Purpose : This study was performed to characterize clinical features of benign convulsions with gastroenteritis(CwG) in infants. Methods : We reviewed clinical features of 67 episodes in 64 patients with afebrile seizure accompanied gastroenteritis admitted to Dept. of Pediatrics Bundang CHA hospital from January 2001 to June 2004. Patients with meningitis, encephalitis/encephalopathy or apparent history of epilepsy were excluded. Results : There were 32 boys and 35 girls. The age of onset ranged from 1 to 42 months($18.5{\pm}6.1$ months). The number of children admitted to the hospital with acute gastroenteritis was 2,887 in the same period. The percentage of patients with CwG was 2.3. Seizure type was exclusively generalized tonic or tonic-clonic seizure. The average number of seizures during a single episode was 3.1 (range, 1-13). Two or more seizures occurred in 53(79.1%) of the 67 episodes. Antiepileptic drugs were administered for 42 episodes. Seizure did not cease after the administration of one kind of antiepileptic drug in 23 episodes(54.7%). The seizures were rather refractory to initial antiepileptic treatment. There were no abnormalities in serum biochemistry test including glucose and electrolytes. Cerebrospinal fluid was normal in all 54 episodes. Stool cultures were negative in 49 episodes. Rotavirus was positive in stools in 51(82.3%) of 62 episodes. Norovirus was positive in stools in 2 episodes and astrovirus in 1 of 18 episodes. CT and/or MRI were performed in 15 cases and demonstrated no neuroradiologic abnormalities. Of 73 Interictal EEG, initial 24 cases showed occasional spike or sharp wave discharges from the mid-line area during stage I-II sleep, which were apparently differentiated from vertex sharp transient or K-complexes. The mean follow-up period was 5.7 months(1-36 months). Three patients experienced a recurrence of CwG, but all patients exhibited normal psychomotor development at the last follow-up. Conclusion : Afebrile infantile convulsions with gastroenteritis are brief generalized seizure in cluster with normal laboratory findings and good prognosis. Therefore CwG is likely to be categorized as situation-related seizure of special syndrome. Recognition of this entity should lead to assurance of the parents and long-term anticonvulsant therapy is not usually warranted.