• Journal of Genetic Medicine
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• 제19권2호
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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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• 제13권1호
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• pp.67-75
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• 2002

연구목적：만성경련 환아의 가족 구성원들의 정신병리와 환아와의 관계를 평가하기 위해 본 연구를 실시하였다. 환아 어머니의 정신병리와 환아와의 관계 및 부부관계를 조사하였고, 환아 아버지와 타 형제들과 환아와의 관계를 조사하였으며, 부모와 아동사이의 의존성정도와 가족구조를 평가하였다. 연구방법：만성경련질환 환아40명과 성별-나이-학업수준이 일치하는 대조군 30명을 연구대상으로 하였다. 만성환아군은 12개월 이상 약물 치료를 받고 있는 정상지능의 일반학교를 다니는 특발성 경련질환아였고, 대조군은 특별한 신체질환이 없는 중간성적 정도의 초등중학생으로 하였다. $2{\sim}3$차례에 걸친 부모 및 환아 면담을 반구조화된 인터뷰로 실시하였고, 부모와 대조군에게 가정환경척도, 간이정신진단검사, 아동의존척도를 배부하여 평가하도록 하였다. 연구결과：두세 차례에 걸친 가족면담에서, 대조군에 비해 유의하게 높은 부모의 과보호, 형제간 적대감 표출 등의 문제를 환아군에서 확인할 수 있었으며, 부부간의 갈등도 대조군에 비해 유의하게 높았다. 가정환경 척도평가에서 대조군에 비해 감정표현영역, 성취지향성영역, 지적-문화적 태도 영역, 적극적 여가선용 영역에서 유의한 저하를 보였고, 의존성척도에서도 정감적 의존, 의사소통에서의 의존, 여행의 어려움 등이 환아군에서 유의하게 높았다. 환아모의 정신병리도 대조군에 비해 거의 모든 척도에서 유의하게 높았으며, $30{\sim}40$대 도시거주 여성과 비교한 T값을 기준으로 할 때 40%정도가 우울-불안장애의 위험성이 있었다. 결 론：만성경련 환아를 둔 가족내에서, 가족구조상의 문제, 가족내 갈등, 환아에 대한 과보호와 과의존, 모의 정신병리 등이 보다 뚜렷하게 높은 것으로 평가되었으며, 이러한 연구결과는 경련환아의 가족에 대한 적극적인 치료적 중재가 필요함을 시사하는 소견이라고 할 수 있다.

• 대한한방소아과학회지
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• 제27권4호
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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.

• 대한한방소아과학회지
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• 제18권2호
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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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• 제2권1호
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• pp.103-111
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• 1985

저자들은 1983년 5월부터 1985년 11월까지 만 30개월간 본원 소아과를 통해 진료받은 100명의 소아간질환아를 대상으로 관찰한 결과 다음과 같은 성적을 얻었다. 1. 남녀별 발생빈도는 1.2:1로 남아에서 약간 많았다. 2. 경련발생 연령은 6개월 미만이 13예(12.6%), 6개월~3세군이 34예(33.0%), 3~5세군이 16예(15.5%), 5~10세군이 24예(23.3%), 10~15세군이 16예 (15.5%)였다. 3. 간질경련 양상은 generalized tonic-clonic, tonic, clonic seizure가 49.5%, 간대성 근경련이 5.8%, 비전형 소발작이 5.8%, 이완성발작이 1%였고, simple P.S.가 7.8%, complex P.S.가 3.9%, simple P.S. $\overline{c}$ 2nd G.이 17.5%, complex P.S. $\overline{c}$ 2nd G.이 2.9%, 미분류가 5.8%였다. 4. 간질의 원인으로 추정이 가능했던 경우가 17예(16.5%)였는데 주산기 저산소증(4.9%), 뇌막염(3.9%), 미숙아분만(1.9%) 등이 많은 원인이었다. 5. 간질과 동반된 질환은 30예(29%)에서 보였는데 지능장애, 과다행동증, 운동발달지연, 뇌성마비 등이 많았다. 6. 42예에서 행한 뇌 전산화단층촬영에서 14예의 이상소견을 보였는데 뇌 위축이 6예, 뇌경색이 3예, 수두증 및 뇌부종소견이 각각 2 예씩 나타났다.

• Parasites, Hosts and Diseases
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• 제54권3호
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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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• 제51권4호
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• pp.415-419
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• 2008

목 적 : 한약은 그 효과 여부를 막론하고 한국인의 기본 의료 추구에 아직까지도 큰 부분을 차지하고 있다. 특히 간질과 같이 장기적인 치료가 필요한 경우 국민 정서상 많은 환자들이 한약 복용을 고려한다고 판단된다. 본 연구는 소아 간질 환자에서 한약에 대한 인식과 복용 실태 등을 조사하여 향후 환자의 치료 및 관리에 도움이 되고자 하였다. 방 법 : 2007년 7월부터 8월까지 고려대학교 안암, 구로, 안산병원 및 광명성애병원 소아청소년과 신경클리닉에 내원한 간질 환자의 보호자 중 설문지를 통해 응답한 378명을 대상으로 소아 간질의 치료와 관련한 한약 복용에 대한 인식과 복용 실태를 분석하였다. 결 과 : 한약을 복용한 적이 없는 경우가 313명(82.8%)이었는데, 복용하지 않은 주된 이유는 '병원에서 처방하는 항간질약제 치료에 나쁜 영향을 끼칠 수 있다고 생각이 되어서'로 30.5%에 해당하였다. 한약을 복용한 적이 없는 환자도 53.4%에서 '담당 의사가 한약에 대해 객관적인 자료 제시나 긍정적인 태도를 보인다면 한약을 복용하겠다'라고 응답하였다. 한약을 복용한 적이 있는 경우는 65명(18.2%)이었는데, 이 중 42.4%가 항간질약제를 복용하는 중에 한약을 병용하였다. 한약 복용 전 담당 의사와 상의를 한 경우는 18명(27.7%)에 불과하였는데, 그 이유로 18명 중42.1%가 '한약을 먹는 것이 별로 문제될 것이 없다고 생각해서', 32.8%가 '평소 담당 의사가 한약에 대해 부정적인 태도를 취해서'라고 응답하였다. 한약을 먹는 이유는 '몸을 보하고 기를 채워야 치료가 더 잘 될 것 같아서'(25.3%), '간질 치료의 보조제라고 생각해서'(15.8%) 등이 많았다. 한약 복용 후 보호자가 느끼는 효과는 '간질 치료에 도움이 되지는 않으나 몸이 건강해진 것 같음' 20명(33.3%), '아무런 반응이 없음' 19명(31.8%) 등으로 답하였다. 부작용을 경험한 경우는 10명(15.4%)이었고 간기능 이상, 구토, 설사, 발진, 어지러움 등이 있었다. 결 론 : 항간질약제로 치료중이거나 치료 종료 후 정기적인 외래 방문을 하고 있는 간질 환자 중 18.2%가 한약을 복용하였으며 복용 행태에 있어서 담당 의사의 태도에 영향을 받았다. 따라서 간질 환자의 한약 복용에 대해 무조건 거부 반응을 보일 것이 아니라 객관적인 자료를 조사하여 충분한 설명과 교육이 필요하다고 생각된다.

• International Journal of Advanced Culture Technology
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• 제6권3호
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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.'

• 기본간호학회지
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• 제11권1호
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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.

• 대한한방소아과학회지
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• 제30권3호
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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.