Periventricular nodular heterotopia in a child with a mild Mowat–Wilson phenotype caused by a novel missense mutation of ZEB2

Periventricular nodular heterotopia (PNH) is a malformation of cortical development in which normal neurons inappropriately cluster in periventricular areas. Patients with Mowat–Wilson syndrome (MWS) typically present with facial gestalt, complex neurologic problems (e.g., severe developmental delay with marked speech impairment and epilepsy), and multiple anomalies (e.g., Hirschsprung disease, urogenital anomalies, congenital heart defects, eye anomalies, and agenesis of the corpus callosum [CC]). MWS is mostly caused by haploinsufficiency of the gene encoding zinc-finger E-box-binding homeobox 2 (ZEB2) due to premature stops or large deletions. We present a case report of a 9-year-old girl with PNH, drug-responsive epilepsy, severe intellectual disability, and facial dysmorphisms only in whom we performed whole-exome sequencing and found a de novo heterozygous missense mutation (c.3134A>C; p.His1045Pro) of ZEB2 (NM_014795.3; NP_055610.1). This mild case of MWS caused by a rare novel missense mutation of ZEB2 represents the first report of MWS with isolated PNH.

A novel frameshift mutation of PRRT2 in a family with infantile convulsions and choreoathetosis syndrome: c.640delinsCC (p.Ala214ProfsTer11)

The infantile convulsions and choreoathetosis (ICCA) syndrome is defined when two overlapping clinical features of benign familial infantile epilepsy (BFIE) and paroxysmal kinesigenic dyskinesia (PKD) are present in an individual or a family. Since the gene encoding proline-rich transmembrane protein 2 (PRRT2) was first identified in Han Chinese families with PKD, mutations of PRRT2 have additionally been reported in patients with BFIE and ICCA. We attempted to identify the genetic etiology in an ICCA family where the proband, her elder sister, and a maternal male cousin had BFIE, and her mother had PKD. Whole-exome sequencing performed in the proband and her sister and mother identified a novel pathogenic mutation of PRRT2 (c.640delinsCC; p.Ala214ProfsTer11), which was verified by Sanger sequencing. This frameshift PRRT2 mutation located near the genetic hot spot of base 649_650 results in the premature termination of the protein, as do most previously reported mutations in BFIE, ICCA, and PKD.

CLN6 Mutation in a Patient with Progressive Myoclonus Epilepsy / 대한소아신경학회지

Neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative disorders, which are caused by the accumulation of lipopigment in lysosomes. Variant forms of late infantile NCLs (vLINCLs) characterized by a later onset of seizures and visual impairment (3–8 years) than in the classic form (2–4 years) are caused by mutations of the gene encoding ceroid lipofuscinosis neuronal protein 6 (CLN6). In a girl with progressive myoclonus epilepsy, we found heterozygous variants of CLN6 (NM_017882.2; NP_060352.1): c.296A>G (p.Lys99Arg) and c.307C>T (p.Arg103Trp). They were identified with whole-exome sequencing and verified with Sanger sequencing. At 7 years and 9 months, our patient had developed multiple types of seizures, prominent myoclonus with photosensitivity, regression in motor and language skills, pyramidal and extrapyramidal signs, and brain atrophy in brain images, all of which were progressive and were compatible with vLINCLs. However, this first Korean report shows no visual impairment, which resembles the previously reported Japanese case.

Neurological Outcome of Ischemic Stroke in Children: a Single Center Study / 대한소아신경학회지

PURPOSE: Ischemic stroke is rarely seen in children, but it could cause mortality and result in developmental disabilities such as motor paralysis, cognitive dysfunction, and epilepsy. In this study, the neurological outcomes of ischemic stroke in children were reviewed and the factors associated with the neurological outcomes were to be analyzed. METHODS: Medical records of patients younger than 15 years of age who were newly diagnosed with ischemic stroke between January 2006 and December 2016 in Chonnam National University Hospital were reviewed. RESULTS: This study consisted of 38 patients with ischemic stroke (male/female= 18/20, mean age=6 years 1 month±4 years 8 months). Neurological outcomes assessment was done at least 1 year after the onset of ischemic stroke. 10 patients (26.3%) had no neurological impairments. Motor paralysis was noted in 22 (57.9%), cognitive dysfunction was in 9 (23.7%), and epilepsy in 20 (52.6%). Among the possible risk factors for neurological impairments (age, sex, early seizures, characteristics of the infarcted lesions, abnormal electroencephalogram (EEG) findings), abnormalities on EEG findings were significantly associated with cognitive dysfunction (P=0.026) and the occurrence of early seizures with epilepsy (P=0.000). CONCLUSION: Neurological impairments were remained in 73.7% of children one year after ischemic stroke. Cognitive dysfunction was associated with abnormalities on EEG findings within 2 weeks after the onset of ischemic stroke and epilepsy with the occurrence of early seizures.

Acute Childhood Encephalitis and Encephalopathy following Infectious Symptoms: a Single Center Study / 대한소아신경학회지

PURPOSE: Acute encephalitis and encephalopathy are preceded by respiratory or enteric infection, whose pathogens can be detected more easily with advanced tools. However, studies for pathogens in Korea remain scarce. We investigated the clinical characteristics and pathogens in childhood encephalitis and encephalopathy. METHODS: We retrospectively reviewed the records of children with acute encephalitis and encephalopathy admitted to our hospital between March 2013 and February 2017. RESULTS: The 51 included patients were aged 5.8±4.4 years (mean±standard deviation), comprising 36 with encephalitis (70.6%) and 15 with encephalopathy (29.4%). Respiratory symptoms (62.7%) were more common than enteric symptoms (45.1%). Brain MRI was abnormal in 54.9%, and leu-kocytosis in the cerebrospinal fluid was noted in 41.2%. The prevalence of diseases was highest in winter (29.4%). In encephalitis, eight patients had infective encephalitis (15.7%), comprising enterovirus (N=4), Epstein-Barr virus (N=3; one with HHV6 coinfection), and tsutsugamushi in-fection (N=1). The 11 patients with ADEM included 1each with adenovirus, influenza A, and mycoplasmal infection. One patient with Bickerstaff-brainstem encephalitis had mycoplasmal pneumonia. In the 15 patients with encephalitis of unknown etiology, rhinovirus (N=3), influenza A (N=2), adenovirus (N=1), and mycoplasmal infection (N=6) were found. In the encephalopa-thy group, three patients had abnormal brain MRI: ANE with influenza A, AESD with exanthem subitum, and norovirus-associated MERS. In the remaining 12 patients, influenza A (N=2), ade-novirus, rhinovirus, enterovirus, norovirus (N=1 for each virus), and mycoplasmal infection (N=4) were found. CONCLUSION: Acute childhood encephalitis and encephalopathy were the most prevalent in winter and were fre-quently associated with respiratory infections.

Long-term Clinical Course and Electroencephalographic Analysis in Children with Benign Childhood Epilepsy with Centrotemporal Spikes

PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) is one of the most common and benign focal epilepsy syndromes during childhood. In this study, we analyzed the clinical features and electroencephalogram (EEG) of BECT patients to determine if there were any predictive factors for seizures or abnormal EEG findings lasting longer than the average. METHODS: We studied 49 patients who were diagnosed with BECTS at the Department of Pediatrics, Chonnam National University Hospital and were 18 years of age or older at the time of the study. Differences in clinical course according to EEG features, treatment duration, abnormal EEG duration, seizure development period, and time to achieving the first normal EEG were analyzed. RESULTS: Average onset age was 8.3±1.9 years and follow-up duration was 4.2±2.4 years. The average seizure-free age was 9.5±2.0 years, and abnormal EEG-free age was 11.6±2.1 years. Younger-onset patients had a longer duration of medication (P=0.04). Patients who needed shorter time to achieving the first normal EEG had a shorter seizure development period (P=0.02). Patients who did not show typical EEG findings consistent with BECTS had a significantly longer duration of medication (P<0.01) and seizure development period (P=0.02), and abnormal EEG duration (P= 0.01). The ratio of abnormal findings in the first three EEGs was significantly correlated with the seizure development period, abnormal EEG duration, and duration of medication (P<0.01). CONCLUSION: Although BECTS is known to take a benign course, the actual clinical course varied from patient to patient, and these variations may be predicted by analyzing clinical factors or EEGs.

A Mild Form of COG5 Defect Showing Early-Childhood-Onset Friedreich's-Ataxia-Like Phenotypes with Isolated Cerebellar Atrophy

Progressive cerebellar ataxias are rare diseases during childhood, especially under 6 years of age. In a single family, three affected siblings exhibited Friedreich's-ataxia-like phenotypes before 2 years of age. They had progressive cerebellar atrophy, intellectual disability, and scoliosis. Although their phenotypes were similar to those observed in patients with autosomal recessive cerebellar ataxias, other phenotypes (e.g., seizure, movement disorders, ophthalmologic disturbance, cardiomyopathy, and cutaneous disorders) were not noted in this family. Whole-exome sequencing of the family members revealed one potential heterozygous mutation (c.1209delG, NM_181733.2; p.Met403IlefsX3, NP_859422.2) of the gene encoding conserved oligomeric Golgi complex subunit 5 (COG5). The heterozygous deletion at the fifth base in exon 12 of COG5 caused a frameshift and premature stop. Western blotting of COG5 proteins in the skin tissues from an affected proband showed a significantly decreased level of full length COG5 and smaller, aberrant COG5 proteins. We reported a milder form of COG5 defect showing Friedreich's-ataxia-like phenotypes without hypotonia, microcephaly, and short stature that were observed in most patients with COG5 defect.

FOXP3 Mutation in a Patient with Proportional Microcephaly and Developmental Delay

Most cases of microcephaly with growth failure and developmental delay have a genetic or metabolic etiology. Whole-exome sequencing (WES) has uncovered many causative genes and has also broadened their phenotypic spectrum. The present study applied WES to a boy with microcephaly, growth failure, developmental delay, seizures and atopic dermatitis, which reveal an unexpected frame-shift mutation (c.1248_1253delinsCT, NM_014009.3; p.Lys416Asnfs, NP_054728.2) in the forkhead box P3 gene (FOXP3). Mutations of this gene are known to result in immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome. Mutation of FOXP3 was reverified by Sanger sequencing in the proband and his carrier mother. Flow-cytometry expression study of FOXP3 in peripheral white blood cells showed that the mean fluorescence intensity of FOXP3 was lower in the proband than in a normal control. We report a mild form of IPEX syndrome without chronic protracted diarrhea or major infections, instead presenting with proportional microcephaly, growth failure, developmental delay, seizures and atopic dermatitis.

The relationship between medical students' epistemological beliefs and achievement on a clinical performance examination / 한국의학교육

PURPOSE: This study was to explore the relationship between clinical performance examination (CPX) achievement and epistemological beliefs to investigate the potentials of epistemological beliefs in ill-structured medical problem solving tasks. METHODS: We administered the epistemological beliefs questionnaire (EBQ) to fourth-year medical students and correlated the results with their CPX scores. The EBQ comprised 61 items reflecting five belief systems: certainty of knowledge, source of knowledge, rigidity of learning, ability to learn, and speed of knowledge acquisition. The CPX included scores for history taking, physical examination, and patient-physician interaction. RESULTS: The higher epistemological beliefs group obtained significantly higher scores on the CPX with regard to history taking and patient-physician interaction. The epistemological beliefs scores on certainty of knowledge and source of knowledge were significantly positively correlated with patient-physician interaction. The epistemological beliefs scores for ability to learn were significantly positively correlated with those for history taking, physical examination, and patient-physician interaction. CONCLUSION: Students with more sophisticated and advanced epistemological beliefs stances used more comprehensive and varied approaches in the patient-physician interaction. Therefore, educational efforts that encourage discussions pertaining to epistemological views should be considered to improve clinical reasoning and problem-solving competence in the clinic setting.

Mentoring experience and its effects on medical interns

<p><b>INTRODUCTION</b>Effective mentoring helps interns in the early stages of their medical career to reach personal and professional goals. This study investigated the mentoring experience of Korean interns during medical internship and evaluated mentoring effects to facilitate the development of future mentoring programmes.</p><p><b>METHODS</b>Participants were interns being trained at Chonnam National University Hospital, South Korea, in 2011. Interns were asked to complete a questionnaire about their mentoring experiences and job satisfaction.</p><p><b>RESULTS</b>A total of 61 medical interns participated in the study, giving a response rate of 70.1%. Among these interns, 26 (42.6%) had mentoring experiences, with an average of 2.3 ± 1.9 mentors per mentee. Mentees usually discussed career planning and concerns regarding their personal and social lives with their mentors. Perceived quality of the mentor was significantly more important for male mentees than for female mentees. Female interns without a mentor made significantly less effort to seek a mentor than their male counterparts. Having and not having a mentor resulted in significant differences in the interns' job satisfaction.</p><p><b>CONCLUSION</b>Fewer than half of the medical interns had mentoring experiences. Results suggest that the mentoring relationship may be less satisfying and more challenging for female interns. Effective mentoring may not only help interns plan their medical career, but also increase job satisfaction. Mentoring programmes during medical internship should be expanded and supported, as it is the initial step in a medical career.</p>

Efficacy of Electroencephalographic Monitoring for the Evaluation of Intracranial Injury during Extracorporeal Membrane Oxygenation Support in Neonates and Infants / 대한구급학회지

BACKGROUND: Neurological complications are a serious concern during extracorporeal membrane oxygenation (ECMO) support in neonates and infants. However, evaluating brain injury during ECMO has limitations. Herein, we report our experience with bedside electroencephalographic monitoring during ECMO support and compared this to post-ECMO brain imaging studies and immediate neurologic outcomes. METHODS: We retrospectively reviewed the data for 18 children who underwent ECMO. From these subjects, we reviewed the medical records of 10 subjects who underwent bedside EEG monitoring during ECMO support. We collected data on patient demographics, clinical details of the ECMO course, electroencephalographic monitoring, brain imaging results, and neurologic outcomes. RESULTS: The median age was 4 months (range: 7 days-22 months), the median weight was 5 (3.6-12) kg, and the median length of ECMO therapy was 86 (27-206) hours. Eight patients (80%) were weaned successfully, and seven (70%) survived to discharge. Those with normal to mildly abnormal electroencephalographic findings had non-specific to mildly abnormal brain computed tomography findings and no neurologic impairment. Those patients with a moderately to severely abnormal electroencephalograph had markedly abnormal brain computed tomography findings and remained neurologically impaired. CONCLUSIONS: Normal electroencephalographic findings are closely related to normal or mild neurologic impairment. Our results indicate that electroencephalographic monitoring during ECMO support can be a feasible tool for evaluating brain injury although further prospective studies are needed.

Headache Associated with Moyamoya Disease in a Child: Pain Pattern in MRA Progression

Headache associated with moyamoya disease (HAMD) has been reported in about 20-30% of pediatric cases with moyamoya disease. However, the characteristic patterns of HAMD during disease progression are not completely known, although much is known on the incidence of HAMD and on the treatment effects of bypass surgery. In a child who presented with HAMD and had no infarction or hemorrhage till bypass surgery, we described the characteristic patterns of headache progression. At first presentation, the patient complained of severe bilateral headache despite mild stenosis only in the left internal carotid artery on brain magnetic resonance angiography. During all stages of progression, headache was severe and pressing in nature rather than throbbing. Nausea and vomiting were present even in the early stage, but photophobia, phonophobia and neck stiffness developed in the late stage. Headache was aggravated by menstruation and was relieved by analgesics and topiramate in the early stage, although the medication failed to provide relief when the headache increased in frequency and duration.

Medical Residents' Job Satisfaction and Their Related Factors / 한국의학교육

PURPOSE: This study was conducted to investigate medical residents' job satisfaction and their related factors to improve the quality of residency program. METHODS: The study subjects were 159 medical residents being trained at Chonnam National University Hospital, South Korea, in 2011. The participants were asked to complete a short form Minnesota satisfaction questionnaire (MSQ). RESULTS: The mean score for 20 items on the short form MSQ varied between 2.91 and 3.64 on a 5-point Likert scale. The assessment of related factors with job satisfaction revealed that medical residents had higher levels for job satisfaction, particularly those who were women (beta=0.200, p=0.022), and those who had mentorship experience (beta=0.219, p=0.008). CONCLUSION: This study results indicate that we should expand and support the mentorship program during medical residency to promote job satisfaction.

Sedative Effect of Chlorpheniramine in Children Failed to sedate with Chloral hydrate and Midazolam

PURPOSE: To evaluate the sedative effect of add-on chlorpheniramine in children with neurologic diseases failed to sedate with chloral hydrate and midazolam. METHODS: Thirty three patients who had not been successfully sedated with oral chloral hydrate and intravenous midazolam for diagnostic examinations were attempted for sedation with intravenous chlorpheniramine at Chonnam National University Hospital from September 2007 to September 2012. The sedative effects were compared on the aspects of age, sex, body weight, dosage of drug and underlying neurologic conditions with the retrospective review of medical records. RESULTS: Among 33 patients, 26(78.7%) were successfully sedated and 7(24.2%) failed to sedate. The success rates were different by age and were decreased with age: 100%(0-4y), 84.6%(5-9y), 50%(10-14y). The effectiveness of chlorpheniramine was not significantly different in terms of ages, sex, body weight, dosage of drug and the underlying neurologic conditions-developmental delay, seizures or organic brain lesions. Children with ADHD(attention-deficit hyperactivity disorder), however, showed a significantly lower success rate than the non-ADHD patient group (28.5%, P=0.002). No serious side effects were reported except for one case with transient perioral cyanosis. CONCLUSION: Chlorpheniramine appeared highly effective in children with neurologic diseases who had not been sedated with chloral hydrate and midazolam. The efficacy seemed to be higher in the younger age groups and lower in children with ADHD.

Prevalence of Primary Immunodeficiency in Korea

This study represents the first epidemiological study based on the national registry of primary immunodeficiencies (PID) in Korea. Patient data were collected from 23 major hospitals. A total of 152 patients with PID (under 19 yr of age), who were observed from 2001 to 2005, have been entered in this registry. The period prevalence of PID in Korea in 2005 is 11.25 per million children. The following frequencies were found: antibody deficiencies, 53.3% (n = 81), phagocytic disorders, 28.9% (n = 44); combined immunodeficiencies, 13.2% (n = 20); and T cell deficiencies, 4.6% (n = 7). Congenital agammaglobulinemia (n = 21) and selective IgA deficiency (n = 21) were the most frequently reported antibody deficiency. Other reported deficiencies were common variable immunodeficiencies (n = 16), X-linked agammaglobulinemia (n = 15), IgG subclass deficiency (n = 4). Phagocytic disorder was mostly chronic granulomatous disease. A small number of patients with Wiskott-Aldrich syndrome, hyper-IgE syndrome, and severe combined immunodeficiency were also registered. Overall, the most common first manifestation was pneumonia. This study provides data that permit a more accurate estimation PID patients in Korea.

Medical Students' Failure Experiences and Their Related Factors / 한국의학교육

PURPOSE: A considerable number of medical students drop out due to low academic achievement, and these students have a high probability of repeated failure experiences. This study investigated the personal and academic problems of these students to help develop student support systems. METHODS: First-year (n=146) and second-year (n=119) medical students were asked to complete questionnaires. The questionnaires consisted of personality traits and the students' management of/satisfaction with school life. RESULTS: Students who had already dropped out accounted for 17.4% of the study subjects. The most common reason for dropping out was low academic achievement, and the most difficult part of taking a leave of absence from school was psychological anxiety. The group who dropped out had significantly lower levels of emotional stability, sociability, responsibility, dominance, masculinity, and superiority and more vulnerable mental states compared with those who did not drop out. They also expressed less motivation with regard to medical science and less satisfaction with school life than did the group that did not drop out. Those who dropped out tended not to prepare for exams, and they managed their time ineffectively. They also tried to resolve their difficulties alone and rarely sought help from teachers. CONCLUSION: More intimate student-teacher relationships should be established, and teachers should be encouraged to meet and interact with their students on a regular basis. Additionally, personality inventories should be used to assist in efforts to understand students, especially to identify hidden social and emotional problems.

Mutation Screening of the gamma-Aminobutyric Acid Type-A Receptor Subunit gamma2 Gene in Korean Patients with Childhood Absence Epilepsy

BACKGROUND AND PURPOSE: Since the gamma-aminobutyric acid type-A receptor subunit gamma2 gene (GABRG2) mutation was discovered in an Australian family with childhood absence epilepsy (CAE) and febrile convulsions, a few screening studies for the GABRG2 mutation have been conducted in sporadic individuals with CAE from other ethnic groups. The aim of this study was to determine whether or not the previously reported genetic mutations and single-nucleotide polymorphisms (SNPs) of GABRG2 can be reproduced in sporadic Korean individuals with CAE, compared to healthy Korean individuals. METHODS: Thirty-five children with CAE in Chonnam National University Hospital and healthy controls (n=207) were enrolled, and the medical records of patients with CAE were reviewed. CAE was diagnosed according to the Classification and Terminology of the International League Against Epilepsy. All nine exons of GABRG2 were directly sequenced. In addition, the two SNPs found in our CAE patients were analyzed: C315T in exon 3 (E3) and C588T in exon 5 (E5). The frequencies of the two SNPs in the CAE patients were compared with data from healthy controls (for E3 and E5) and from previously reported Korean population data (only for E3). RESULTS: No mutation of GABRG2 was found in our CAE patients. In addition, the allele and genotype frequencies of the two polymorphisms did not differ significantly between CAE patients, healthy controls, and the Korean general population (p>0.05). CONCLUSIONS: Our study of sporadic Korean individuals with CAE found no evidence that GABRG2 contributes to the genetic basis of CAE.

Low-dose, Once-a-day Treatment of Topiramate in Benign Childhood Epilepsy with Centrotemporal Spikes

PURPOSE: Benign childhood epilepsy with centrotemporal spikes (BECTS) is known to have a good prognosis, and is easily controlled with antiepileptic drugs. In this study, we evaluate the efficacy of low-dose topiramate (TPM), once at night time in children with BECTS, and compare with that of oxcarbazepine (OXC). METHODS: OXC was used as a first drug in 58 patients with BECTS at the department of pediatrics, Chonnam National University hospital from Jan. 2003 to Nov. 2010. Their medical records were reviewed, focusing on the onset age of seizure, the dosage of drugs, response to treatment and other clinical features. Since Aug. 2008 through Apr. 2011, some newly diagnosed patients with BECTS were given a low-dose (25mg) of TPM, once at nighttime. The efficacy was reviewed in 14 children, who had been followed up in the outpatient clinic for longer than twelve months. RESULTS: Forty five out of 58 (77.6%) patients were well controlled with OXC. Thirteen out of 58 (22.4%), seizures recurred, on whom TPM (n=9) or lamotrigine (n=4) was added. Nine (64.3%) of the 14 patients who were started with low dose TPM became seizure-free for at least 12 months. However, Two out of 14, the dose of TPM had to be increased up to 100 mg/day and 75 mg/day, respectively. In three, seizure was controlled with OXC. CONCLUSION: A single low-dose TPM would be as effective as the conventional OXC without any adverse effects in children with BECTS.

The Poor Seizure Outcome of Acute Febrile Encephalopathy in Children

PURPOSE: The aim of this study was to describe the clinical course and outcome of the patient with epilepsy after acute febrile encephalopathy. METHODS: Medical records of the twenty patients with acute febrile encephalopathy from Mar. 2003 to Dec. 2011, were reviewed. The outcome of epilepsy over 12 months after discharge from encephalopathy was investigated and compared with non-epilepsy group on several clinical and laboratory aspects. RESULTS: All revealed negative on viral study. Eight of 20 patients evolved to epilepsy eventually and 3 out of them had a status epilepticus as initial manifestation. Five of them remained medically intractable. Two showed ongoing violent behavior during follow-up period and 1 had motor weakness of lower limbs for a year. All had non-specific brain MRI findings, except the one who showed suspected cerebritis of right basal ganglia on follow-up study. Five of 8 epilepsy patients showed epileptic discharges on the first electroencephalogram. Two of them showed sustained frontal spikes and one who had abnormal brain MRI findings showed left temporal spike on follow-up EEG. Longer period of altered mentality and more frequent epileptiform discharges on initial EEG appeared to be related with progression to epilepsy during follow-up period. CONCLUSION: Acute febrile encephalopathy in children may be related to poor seizure outcome and resultant psychomotor problems. Further studies including laboratory exams to define its pathophysiology would be needed.

Clinical Progress of Epilepsy in Children with Tuberous Sclerosis: Prognostic Factors for Seizure Outcome / 전남의대학술지

The incidence and outcome of epilepsy in tuberous sclerosis (TS) patients have not yet been thoroughly investigated. The aim of this study was to evaluate the clinical features and prognosis of epileptic seizures associated with TS. The medical records of 29 patients who satisfied the diagnostic criteria for TS and were followed up for at least 2 years at the Department of Pediatrics, Chonnam National University Hospital (CNUH), between January 2000 and December 2010 were reviewed. Onset age of seizure, initial electroencephalography (EEG) findings, and efficacy of treatment were evaluated. Brain imaging studies were reanalyzed to determine the number of cortical tubers and subependymal nodules present. A total of 26 (89.6%) cases presented with seizures. In the seizure-controlled group (n=9, 34.6%), the mean number of cortical tubers was 4.5 (range, 0-16) and the mean number of subependymal nodules was 6.2 (range, 0-14). Initial EEG identified epileptiform discharges in 4 (44.5%) of these cases. In the seizure-sustained group (n=17, 58.6%), 10 patients had initial seizures before 1 year of age. In this group, the mean number of cortical tubers was 6.0 (range, 0-20) and the mean number of subependymal nodules was 6.0 (range, 1-11). A total of 15 (88.2%) had epileptiform discharges on their initial EEGs. In three patients who did not show any seizures during the observation period, the mean number of cortical tubers was 1.3 (range, 0-2), and the mean number of subependymal nodules was 4.6 (range, 0-13). Medical intractability of epilepsy in conjunction with TS did not correlate with age at onset of seizure, the number of cortical tubers, or subependymal nodules, but was associated with initial EEG findings.