• Journal of Genetic Medicine
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• v.19 no.2
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• pp.100-104
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• 2022

The gene encoding solute carrier family 9 member 6 (SLC9A6) on Xq26.3 is associated with Christianson syndrome (CS) mimicking Angelman syndrome. In CS, developmental and epileptic encephalopathy (DEE) appears in about 20%, and DEE with spike-and-wave activation in sleep (SWAS) is reported only in several cases. A 10-year-old boy with DEE showed multidrug resistant focal seizures from 6 months of age. He had progressive microcephaly, regression, global developmental delay without speech, hyperkinesia, and truncal ataxia; he had a long thin face, esotropia, and happy demeanor. Brain magnetic resonance imaging demonstrated cerebellar atrophy. Electroencephalogram at 7.5 years of age showed nearly continuous diffuse paroxysms in slow wave sleep. The seizures were responsive to corticosteroids for a while. Trio whole exome sequencing exhibited a likely pathogenic variant of SLC9A6 in the proband and his asymptomatic mother: c.1194dup (p.Leu399AlafsTer12). This is a rare case report of CS with DEE-SWAS in a Korean patient.

• Journal of the Korean Academy of Child and Adolescent Psychiatry
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• v.13 no.1
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• pp.67-75
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• 2002

Objectives：This study was conducted to investigate the degree of psychopathologies of the family members of children with chronic convulsive disorder and evaluate the structures and dynamics of those families. Methods：The participant patients and family members were recruited from the population attending the outpatient clinic of department of pediatric neurology in Seoul National University Hospital in Korea. All the patients had idiopathic chronic convulsive disorder. Any patient with mental retardation, pervasive developmental disorder and gross brain pathology was excluded. As controls, normal students were chosen and their sex, age, achievement, socioeconomic status were matched to patients. The author interviewed the children and their family members twice and obtained informations about patient-parent relationship, patient-sibling relationship and others. For in-depth evaluation, we used family environment scales(FES), symptom Checklist-90-revised(SCL-90-R), self administered dependency questionnaire for mother(SADQ). Results：After interviewing with the parents of epileptic children, overprotection of parents, hostile feeling of siblings toward index children were higher than controls. The parental conflict was also more expressed than control families. According to results from FES, the scores of the subscales of expression, achievement-orientation, intelligence-orientation and active recreation were significantly lower than control group. The epileptic children showed higher dependency to parents especially in affection, communication and traveling areas of SADQ than control group. Maternal psychopathologies evaluated by SCL-90-R were much higher than the mothers of controls. According to T scores of SCL-90-R, about 40% of mothers with epileptic children had the risk of clinically significant depressive or anxiety disorders. Conclusion：These results suggested that the family members of epileptic children had more relationship problems and psychopathologies than control group and some mothers might have clinically significant depressive or anxiety disorders. so, effective psychiatric family interventions are needed for resolution of conflict and psychopathologies of family members.

• The Journal of Pediatrics of Korean Medicine
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• v.27 no.4
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• pp.1-9
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• 2013

Objectives The purpose of this study is to report the cases of two pediatric patients diagnosed as Sik-gan (食癎), a kind of epileptic seizure thought to be caused by uncontrolled consumption of food, treated by formula variation of Samchulkunbi-tang (蔘朮健脾湯). Methods Two pediatric patients diagnosed as Sik-gan (食癎) according to traditional Korean medical terms were administered by variety of Samchulkunbi-tangs (蔘朮健脾湯) while correcting unhealthy eating habit. To measure the degree of the patients' process, the number and exact symptoms of seizure events, and gastrointestinal symptoms were recorded. Results The treatment of various Samchulkunbi-tang (蔘朮健脾湯) was not only extended remission period of seizure, but also improved gastrointestinal symptoms on both of the patients. Conclusions Pediatric patients who have past medical conditions for epileptic seizure as well as unhealthy eating habits or gastrointestinal malfunctions are prone to have a specific form of seizure called the Sik-gan (食癎). In this report, we have proven that variety of Samchulkunbi-tang (蔘朮健脾湯) can considerably be effective in improving the patients' gastrointestinal symptoms and preventing recurring seizure events.

• The Journal of Pediatrics of Korean Medicine
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• v.18 no.2
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• pp.263-271
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• 2004

Objective : Epilepsy is a brain condition which causes a person to suddenly lose consciousness and sometimes to have fits. The etiologic factors of epilepsy are various, but most of cases are idiopathic. The purpose of this study is to report a pediatric patient with idiopathic epilepsy. Method : We treated him with herb medicine, acupucture and anticonvulsant. Then, we stopped administering anticonvulsant, and observed the progress of his condition. Result : We had good effect with oriental medical treatment on an epileptic who quitted taking anticonvulsant. Conclusion : We report the good results of oriental medicine on a pediatric patient with idiopathic epilepsy. And the further study is needed with more cases, longer duration and other tools.

• Journal of Yeungnam Medical Science
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• v.2 no.1
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• pp.103-111
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• 1985

Childhood epilepsy which has high prevalence rate and inception rate is one of the commonest problem encountered in pediatrician. In contrast with epilepsy of adult, in childhood epilepsy, more variable and varying manifestations are found because the factors of age, growth and development exert their influences in the manifestations and the courses of childhood epilepsy. Moreover epileptic children have associated problems such as physical and mental handicaps, psychologicaldisorders and learning disability. For these reasons pediatrician who deals with epileptic children experiences difficulties in making diagnosis and managing them. In order to improve understanding and management of childhood epilepsy, authors reviewed 103 cases of epileptic patients seen at pediatric department of Yeungnam University Hospital retrospectively. The patients were classified according to the type of epileptic seizure. Suspected causes of epilepsy, associated conditions of epileptic patients, age incidence and the findings of brain CT were reviewed. Large numbers of epileptic patients (61.2%) developed their first seizures under the age of 5. The most frequent type of epileptic seizure was generalized ionic-clonic, tonic, clonic seizure (49.5%), followed by simple partial seizure with secondary generalization (17.5%), simple partial seizure (7.8%), a typical absence (5.8%) and unclassified seizure (5.8%). In 83.5% of patients, we could not find specific cause of it, but in 16.5% of cases, history of neonatal hypoxia (4.9%), meningitis (3.9%), prematurity (1.9%), small for gestational age (1.0%), CO poisoning (1.0%), encephalopathy (1.0%), DPT vaccination (1.0%), cerebrovascular accident (1.0%) and neonatal jaundice (1.0%) were found, 30 cases of patients had associated diseases such as mental retardation, hyperactivity, delayed motor milestones or their combinations. The major abnormal findings of brain CT performed in 42 cases were cortical atrophy, cerebral infarction, hydrocephalus and brain swelling. This review stressed better designed classification of epilepsy is needed and with promotion of medical care, prevention of epilepsy is possible in some cases. Also it is stressed that childhood epilepsy requires multidisplinary therapy and brain CT is helpful in the evaluation of epilepsy with limitation in therapeutic aspects.

• Parasites, Hosts and Diseases
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• v.54 no.3
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• pp.335-338
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• 2016

The present study aimed to investigate the possible association of Toxoplasma gondii and Toxocara spp. infections with cryptogenic epilepsy in children. The study was carried out between June 2014 and March 2015. Total 90 children (40 with cryptogenic epilepsy, 30 with non-cryptogenic epilepsy, and 20 healthy control children) were evaluated to determine the anti-Toxocara and anti-T. gondii IgG seropositivity using ELISA kits. Epileptic cases were selected from those attending the pediatrics outpatient clinic of Benha University Hospital, Pediatrics Neurology Unit, and from Benha Specialized Hospital of children. The results showed that the level of anti-T. gondii IgG seropositivity was significantly higher among children with cryptogenic epilepsy (20%) than among children with non-cryptogenic children (0%). In healthy controls (10%), there was no association between toxocariasis seropositivity and cryptogenic epilepsy (only 5.7%; 4 out of 70 cases) among cases and 10% (2 out of 20) among controls. Among toxocariasis IgG positive cases, 3 (7.5%) were cryptogenic, and only 1 (3.3%) was non-cryptogenic. These statistically significant results support the association between T. gondii infection and cryptogenic epilepsy while deny this association with toxocariasis.

• Clinical and Experimental Pediatrics
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• v.51 no.4
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• pp.415-419
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• 2008

Purpose : Herbal medicine is thought to be widely used by children with epilepsy, but there have been few studies. This study aimed to investigate the perceptions and the actual conditions of usage of herbal medicine by children with epilepsy. Methods : From July to August 2007, three hundred seventy eight questionnaires were completed by parents of epileptic children who visited pediatric neurology clinic of Korea University hospital and Kwangmyung-Sungae hospital. Demographic data and patterns of usage of herbal medicine were investigated. Results : Among 378 patients, sixty five (17.2%) reported using herbal medicine. Major reasons for using herbal medicine were 'to enhance general health' and 'belief that it has fewer side effects'. Majority of respondents did not notify their physician about using herbal medicine because 'they did not need to share this with doctor' and 'they thought their doctor would disapprove'. After taking herbal medicine, 33.3% of patients reported that it did not benefit their seizure but they felt healthier. Usage of herbal medicine was significantly related to number of AEDs (antiepileptic drugs), duration of AED treatment, association with psychosomatic disorders and motivation by other people or by mass media. Conclusion : Considerable numbers of epileptic children were using herbal medicine during treatment with AED and did not inform their physician about usage of it. Physicians should be aware of benefits and harms of herbal medicine and actively intervene in the usage of herbal medicine by epileptic patients.

• International Journal of Advanced Culture Technology
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• v.6 no.3
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• pp.27-36
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• 2018

This is qualitative research using grounded theory to examine the experiences that mothers of children with epilepsy can have. Data were collected through in-depth interviews, observation, and memo-taking with a total of 13 participants in this study-10 mothers taking care of children with epilepsy and 3 principal informants-and the data were analyzed using the method developed by Strauss and Corbin (1998). As a result of data analysis, 163 concepts, 26 subcategories and 8 categories were formed through open coding. Such categories were analyzed by the paradigm of the grounded theory, and as a result the experiences of the mothers of epileptic children were based on a causal condition of 'confrontation' and the central phenomenon of 'Wandering around the forest under a yoke'. The contextual conditions, which exerted influence on phenomena, were 'stigma cognition', 'personality traits' and 'health of children.' The action/interaction strategy selected by participants was 'Quietly pulling through: Bracing myself, Getting to know my enemy and myself, Taking care while hiding, Putting out one step at a time, Establishing a foothold. The intervening condition affecting action/interaction was 'the support system', and its result was 'watching.'

• Journal of Korean Academy of Fundamentals of Nursing
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• v.11 no.1
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• pp.74-81
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• 2004

Purpose: This study investigated the need for information and social support in parents of children with epilepsy. Method: A total of 119 parents of children with epilepsy were recruited and asked to fill out questionnaires. Result: Of 119 parents, two-third reported that they received full and sufficient information about their child's disease and its management but one-third felt the information was insufficient and incomplete. Most parents (62.2%) felt at loss when their child had a seizure, either at home or at school. They wanted information on the causes of seizures, adequate steps deal with seizure and steps they should take to become adequate and supportive parents for their children. However, most parents were reluctant to disclose the disease or to receive support from outsiders. Conclusion: Regardless of the fact that most parents received sufficient information about the management of epilepsy, they felt at a loss when their child had a seizure attack. Therefore nurses should give specific instruction on seizure management and assess the needs of parents on a regular basis.

• The Journal of Pediatrics of Korean Medicine
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• v.30 no.3
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• pp.61-68
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• 2016

Objectives The purpose of this study is to report a case of one infant patient diagnosed as Sik-Gan (食癎) who was treated by Korean medical treatment. Methods We diagnosed an infant patient as Sik-Gan (食癎) and treated him with herbal medicine, acupuncture, moxa and chuna therapy while correcting his eating habit. To measure the degree of the patient's progress, the frequency and exact symptoms of seizure events, and gastrointestinal symptoms were recorded. Results Korean medical treatment reduced the patient's the frequency of seizure, and improved gastrointestinal symptoms. Conclusions A patient who has past medical history of epileptic seizures, unhealthy eating habits and gastrointestinal malfunctions is prone to have a specific form of seizure called the Sik-Gan (食癎). In this report, we have proven that variety of Korean medical treatment can considerably be effective in preventing recurring seizure events and improving the patients' gastrointestinal symptoms.