• Clinical and Experimental Pediatrics
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• v.55 no.12
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• pp.487-490
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• 2012

We report a case of isodicentric chromosome 15 (idic(15) chromosome), the presence of which resulted in uncontrolled seizures, including epileptic spasms, tonic seizures, and global developmental delay. A 10-month-old female infant was referred to our pediatric neurology clinic because of uncontrolled seizures and global developmental delay. She had generalized tonic-clonic seizures since 7 months of age. At referral, she could not control her head and presented with generalized hypotonia. Her brain magnetic resonance imaging scans and metabolic evaluation results were normal. Routine karyotyping indicated the presence of a supernumerary marker chromosome of unknown origin (47, XX +mar). An array-comparative genomic hybridization (CGH) analysis revealed amplification from 15q11.1 to 15q13.1. Subsequent fluorescence in situ hybridization analysis confirmed a idic(15) chromosome. Array-CGH analysis has the advantage in determining the unknown origin of a supernumerary marker chromosome, and could be a useful method for the genetic diagnosis of epilepsy syndromes associated with various chromosomal aberrations.

• 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 the Korean Academy of Child and Adolescent Psychiatry
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• v.7 no.1
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• pp.92-109
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• 1996

The objectives of the present study were to provide comprehensive assessment of the impact of epilepsy on the psychological well-being of children with epilepsy and to identify the neurological factors associated with the psychopathology. The participant patients were recruited from the population of children and adolescent aged 7 to 16 attending the OPD of department of pediatric neurology in Seoul National University Hospital in Korea. We exclude mental retardation, pervasive developmental disorder and brain organic pathology. As control group, formal students were chosen and their sex, age, achievement, socioeconomic status were matched to patients. The first author interviewed the children and their family members and obtained the developmental history and family information. We used the following 10 scales for assessing psychological and behavioral problems in patients and their family member. The scales were standardized and their validity and reliability were confirmed before. Parent rating scales : Yale children's inventory, Disruptive behavior disorder scale, Parent's attitude to epilepsy questionnaire, Family environment scale, Symptom check-list-90 revision, Children behavior check-list. Children's self rating scales : Children's depression inventory, Spielberger's state-trait anxiety anxiety, Piers-Harris self-concept inventory and Self-administered Dependency questionnaire for Mother. The result showed the risk factors associated depression were early onset, complex partial seizure, lateralized temporal focal abnormality on EEG, Drug polypharmacy, high seizure frequency and sick factors associated anxiety were old age of patient, lateralized temporal focal abnormality EEG, Drug polypharmacy, high seizure frequency. Also the result of this present study indicated that risk factors associated oppositional defiant disorder, conduct disorder and attention deficit hyperactivity disorder were young age, male, early onset, lateral temporal EEG abnormality and high seizure frequency. According to these results, common risk factors associated psychological and behavioral problems were lateralized EEG temporal abnormality, high seizure frequency in neurological factors.

• 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.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.12 no.1
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• pp.16-19
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• 2016

Oral self-injurious behavior (SIB) can be defined as the intentional, direct injuring of oral tissue, most often done without conscious suicidal intent and most commonly associated with tongue or lip biting. Chronic biting of oral mucosa is an innocuous self inflicted injury, commonly seen in children suffering from developmental and psychological problems. The cases presented in this report discuss oral SIB due to epilepsy, quadriplegia and their treatments. This report documents a successful self-injurious behavior treatment of epilepsy patients within a short time by applying a removable intraoral device. Clinicians should notice the possibility of oral SIB in various disorders. Moreover, different treatment should be performed according to the causative disorders and symptoms.

• Clinical and Experimental Pediatrics
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• v.57 no.9
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• pp.384-395
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• 2014

Febrile seizure (FS) is the most common seizure disorder of childhood, and occurs in an age-related manner. FS are classified into simple and complex. FS has a multifactorial inheritance, suggesting that both genetic and environmental factors are causative. Various animal models have elucidated the pathophysiological mechanisms of FS. Risk factors for a first FS are a family history of the disorder and a developmental delay. Risk factors for recurrent FS are a family history, age below 18 months at seizure onset, maximum temperature, and duration of fever. Risk factors for subsequent development of epilepsy are neurodevelopmental abnormality and complex FS. Clinicians evaluating children after a simple FS should concentrate on identifying the cause of the child's fever. Meningitis should be considered in the differential diagnosis for any febrile child. A simple FS does not usually require further evaluation such as ordering electroencephalography, neuroimaging, or other studies. Treatment is acute rescue therapy for prolonged FS. Antipyretics are not proven to reduce the recurrence risk for FS. Some evidence shows that both intermittent therapy with oral/rectal diazepam and continuous prophylaxis with oral phenobarbital or valproate are effective in reducing the risk of recurrence, but there is no evidence that these medications reduce the risk of subsequent epilepsy. Vaccine-induced FS is a rare event that does not lead to deleterious outcomes, but could affect patient and physician attitudes toward the safety of vaccination.

• Korean Journal of Clinical Laboratory Science
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• v.39 no.1
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• pp.56-62
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• 2007

Lennox-Gastaut syndrome(LGS) is a severe age-specific epilepsy syndrome that causes medication-resistant seizures in childhood. Vagal nerve stimulation (VNS) has been proposed as a possible way to improve the treatment of refractory epilepsy. We treated 9 patients with Lennox-Gastaut syndrome between the ages of 2 and 11 years (mean 5.8 years), by using the vagus nerve stimulation. The mean follow-up duration was 35 months. The mean reduction of seizure frequency compared with baseline before VNS was 52% after 6 months (range, 0% to 89%; P<0.011), and 58% after 1 year (range 0% to 89%; P<0.012). Seven patients showed improvements of quality of life (QOL) such as alertness, mood, and language skills. The most common side effects were transient hoarseness (6 patients) and drooling (1 patient). Our results suggest that the vagus nerve stimulation could be an effective and safe adjunct therapy for the treatment of Lennox-Gastaut syndrome.

• Clinical and Experimental Pediatrics
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• v.48 no.5
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• pp.527-533
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• 2005

Purpose : Long-term administration of anticonvulsants in children with epilepsy may cause short stature, hypocalcemia and low bone mineral density. This study was performed for the early detection of abnormal bone metabolism in children with epilepsy on taking anticonvulsants. Methods : Thirty children aged 5 to 16 years who were diagnosed with epilepsy were enrolled in this study. All had taken anticonvulsants for more than one year. Bone mineral density of lumbar vertebra was measured by dual-energy X-ray absorptiometry. Serum calcium, phosphorous, alkaline phosphatase, 25-hydroxycholecalciferol[$25(OH)D_3$], parathyroid hormone, and urine deoxypyridinoline were measured as biochemical bone markers. Bone age and body mass index were also calculated. Results : Bone minreal density, body mass index, bone age, and height were significantly decreased in two female patients who had taken two antiepileptic drugs for more than four years and they also had chronic diseases such as cerebral palsy with microcephaly, encephalomalacia, and microcephaly with atrial septal defect. Bone mineral density had significant positive correlations with body mass index(P<0.01) and bone age(P<0.01). Conclusion : This study showed chronic medication of anticonvulsants in children may cause low bone mineral density and short stature. Bone age and body mass index could be the important surrogate markers to find the population at risk. More studies, including a large study population and long term cohort study, will be required.

• Clinical and Experimental Pediatrics
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• v.53 no.8
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• pp.786-789
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• 2010

Induced pluripotent stem (iPS) cells are generated by epigenetic reprogramming of somatic cells through the exogenous expression of transcription factors. Recently, the generation of iPS cells from patients with a variety of genetic diseases was found to likely have a major impact on regenerative medicine, because these cells self-renew indefinitely in culture while retaining the capacity to differentiate into any cell type in the body, thereby enabling disease investigation and drug development. This review focuses on the current state of iPS cell technology and discusses the potential applications of these cells for disease modeling; drug discovery; and eventually, cell replacement therapy.

• Journal of Korean Academy of Nursing
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• v.43 no.2
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• pp.247-255
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• 2013

Purpose: This study was done to evaluate the effects of 3 times/week and 5 times/week abdominal meridian massage with aroma oils (AMMAO) on the relief of constipation among hospitalized children with disabilities involving the brain lesions (cerebral palsy, epilepsy, and others). Methods: The participants were 33 hospitalized children with a disability involving the brain (15 were in the 5 times/week of AMMAO group and 18 were in the 3 times/week of AMMAO group). Data were collected from March 21 to May 1, 2011. Chi-square test, t-test, and repeated measures ANOVA with SPSS 18.0 were used to evaluate the effects of AMMAO. Results: While there was no significant difference between the two groups, there was a significant difference within groups between baseline and the end of the intervention period for the following, frequency of suppository use or enemas, amount of stool, and number of bowel movements. Conclusion: The results of this study indicate that AMMAO is an effective nursing intervention in relief of constipation for hospitalized children with a disability involving the brain. Therefore it is recommended that AMMAO be used in clinical practice as an effective nursing intervention for relief of constipation to these children.