PURPOSE: To verify the efficacy and safety of lamotrigine (LTG) monotherapy in newly diagnosed children with epilepsy. METHODS: We prospectively enrolled 148 children who had undergone LTG monotherapy at our institution between September 2002 and June 2009. Twenty-nine patients were excluded: 19 due to incomplete data and 10 were lost to follow up. The data of the remaining 119 patients was analyzed. RESULTS: We enrolled 119 pediatric epilepsy patients (aged 2.8-19.3 years; 66 males and 53 females) in this study. Out of 119 patients, 29 (25.2%) had generalized epilepsy and 90 (74.8%) had partial epilepsy. The responses of seizure reduction were as follows: Seizure freedom (no seizure attack for at least 6 months) in 87/111 (78.4%, n=111) patients; partial response (reduced seizure frequency compared to baseline) in 13 (11.7%) patients; and persistent seizure in 11 (9.9%) patients. The seizure freedom rate was in 81.6% in patients with partial seizure (75.9% for complex partial seizure and 90.9% for benign rolandic epilepsy) and 44.8% in patients with generalized epilepsy (30.0% for absence seizure, 35.7% for juvenile myoclonic epilepsy patients, and 100.0% for idiopathic generalized epilepsy patients). Adverse reactions were reported in 17 (14.3%) patients, and 8 patients (6.7%) discontinued LTG because of rash and tic. No patient experienced severe adverse reaction such as Stevens-Johnson syndrome. CONCLUSION: LTG showed excellent therapeutic response and had few significant adverse effects. Our findings report may contribute in promoting the use of LTG monotherapy in epileptic children.
Child ; Epilepsies, Partial ; Epilepsy ; Epilepsy, Absence ; Epilepsy, Generalized ; Exanthema ; Freedom ; Humans ; Lost to Follow-Up ; Male ; Myoclonic Epilepsy, Juvenile ; Prospective Studies ; Seizures ; Stevens-Johnson Syndrome ; Tics ; Triazines

BACKGROUND: Although a history of febrile convulsion (FC) is common in epilepsy patients, the preferential associa-tion of febrile convulsion with temporal lobe epilepsy (TLE) is not clear. METHODS:We obtained the FC data from "Paik and Bongsang hospital" epilepsy clinic. We classified epilepsy syndromes into generalized epilepsy (GE), temporal lobe epilepsy (TLE), extratemporal epilepsy (ETLE), unclassified partial and undetermined epilepsy by standardized criteria. The incidence of antecedent FC was evaluated in relation to the epilepsy classifications. We calculated kappa values for inter and intra observer reliability for the classifications of epilepsy syndromes. RESULTS: The agreement of epilepsy classifications were reliable (intra-observer kappa value=0.78, inter-observer kappa value=0.77). Thirteen percent of the studied patients (72/537) had a history of FC and 38% of FC (27/72) were complex types of FC. TLE was more likely to be preceded by FC 25% (42/166) than ETLE 6% (12/189), p<0.05 or GE 13% (12/93), p<0.05 and 85% of complex FC (23/27) preceded TLE. GE however, was more likely to have non-complex FC 100% (12/12) than partial epilepsy 55% (32/58), p<0.05. CONCLUSIONS We therefore conclude and agree that FC should be preferentially associated with TLE.
Classification ; Epilepsies, Partial ; Epilepsy ; Epilepsy, Generalized ; Epilepsy, Temporal Lobe* ; Humans ; Incidence ; Seizures, Febrile* ; Temporal Lobe*

OBJECTIVE: To investigate whether the tonic-clonic seizure (TCS) induced by intermittent photic stimulation (IPS)was generalized tonic-clonic seizure (GTCS)or partial secondarily tonic-clonic seizure (PGTCS),and to analyze the relationship between them. METHODS: Video-electroencephalogram (VEEG)database of Peking University First Hospital from March 2010 to October 2018 were reviewed. Fifteen cases with idiopathic epilepsy who had TCS induced by IPS were included in this study, and their clinical and electroencephalogram (EEG)characteristics were retrospectively analyzed. RESULTS: In this study, 4 of the 15 cases were boys and 11 were girls. The age of seizure onset ranged from 1 to 13 years. According to the medical records: 12 cases were considered as GTCS,while the remaining 3 cases were considered as PGTCS. The age at VEEG monitoring ranged from 2.5 to 16.0 years. All backgrounds of the VEEG were normal. Interictal discharges:generalized discharges in 11 cases, of which 4 cases coexisted with posterior discharges, 2 cases coexisted with Rolandic discharges, the other 5 cases merely had generalized discharges; merely focal discharges in two cases, one in the Rolandic area and the other in the posterior area; no interictal discharge in the remaining 2 cases. IPS induced photoparoxysmal response (PPR)results: 2 cases without PPR,the remaining 13 cases with PPR of generalized discharges, and 6 of the 13 cases coexisted with posterior discharges. IPS induced photoconvulsive response (PCR)results: GTCS in one case (contradictory to medical history),PGTCS in 11 cases (consistent with medical history),and GTCS and PGTCS hardly to distinguish in the remaining 3 cases. Of the three conditions above, there were generalized myoclonic seizures induced by IPS before TCS in 7 cases. CONCLUSION The medical history was unreliable in determining whether TCS was generalized or focal. Myoclonic seizures can coexist with PGTCS, and sometimes GTCS was indistinguishable from PGTCS, indicating that the dichotomy of seizure types need to be improved. Photosensitive TCS should be regarded as a continuum between focal and generalized seizures.
Electroencephalography ; Epilepsy, Generalized ; Epilepsy, Tonic-Clonic ; Female ; Humans ; Male ; Retrospective Studies ; Seizures

PURPOSE: Mutations in gamma-aminobutyric acid(GABA) A receptor gamma2 subunit gene (GABRG2) were independently identified in families of generalized epilepsy with febrile seizures plus(GEFS+) and families of absence epilepsy and febrile seizures(FSs). The present study assessed the role of GABRG2 gene in idiopathic generalized epilepsies(IGEs) of Korean population. METHODS: Twenty-three IGEs and 94 healthy control subjects were selected through a collaborative study of Catholic Child Neurology Research Group. The SNP211037 of GABRG2 were screened by DHPLC. DNA fragments showing variant chromatograms were subsequently sequenced. Genotypes and allelic frequencies for GABRG2 gene polymorphism in three groups were compared. RESULTS: Genotypes and allelic frequencies of the gamma2 subunit of the GABA receptor gene(SNP211037) in both groups were not significantly different. The most common genotypes for GABRG2(SNP211037) gene in both groups were T/C heterozygote. The allele C and T frequencies for GABRG2(SNP211037) in the IGEs group were 45.7% and 54.3%, respectively and in healthy control group, 42.6% and 57.4%, respectively. The number of individuals with the GABRG2 (SNP211037)-C/C genotype in the IGEs group was greater compared with that in the healthy control group(21.7% versus 12.8%). The odds ratio for developing IGEs in individuals with the GABRG2 (SNP211037)-CC genotype was 1.65 compared with individuals with the GABRG2 (SNP211037)-T/T genotype, which was not significantly different. CONCLUSION: These data suggest that genomic variations of GABRG2 might not be one of the susceptibility factors for IGEs in the Korean population.
Alleles ; Child ; DNA ; Epilepsy, Absence ; Epilepsy, Generalized ; Genotype ; Heterozygote ; Humans ; Neurology ; Odds Ratio ; Polymorphism, Single Nucleotide* ; Receptors, GABA ; Seizures, Febrile

PURPOSE: Febrile seizures are characterized by a heterogenous phenotype segregating as an autosomal dominant trait with incomplete penetrance. Mutations in GABRG2 gene were identified in two families with generalized epilepsy and febrile seizures plus (GEFS+) and with absence epilepsy and febrile seizures(FSs). The present study assessed the role of GABRG2 gene in FSs and GEFS+ of the Korean population. METHODS: 66 FSs, 20 GEFS+ and 94 healthy control subjects were selected throughout a collaborative study of Catholic Child Neurology Research Group. The SNP211037 of GABRG2 was screened by DHPLC. DNA fragments showing variant chromatograms were subsequently sequenced. Genotypes and allelic frequencies for GABRG2 gene polymorphism in three groups were compared. RESULTS: The number of individuals with the GABRG2(SNP211037)-C/C genotype in patients with FSs was significantly greater compared with that in healthy control subjects and the GABRG2(SNP211037)-C allele frequency in patients with FSs was significantly higher than that in healthy control subjects. The odds ratio for developing FSs in individuals with the GABRG2(SNP211037)-CC genotype was 5.96 compard with individuals with the GABRG2(SNP211037)-T/T genotype. In contrast, the GABRG2 (SNP211037) gene in GEFS+ and control groups was not significantly different. CONCLUSION: Theses data suggest that genomic variations of GABRG2 might be one of the susceptibility factors for FSs in the Korean population.
Child ; DNA ; Epilepsy, Absence ; Epilepsy, Generalized ; Gene Frequency ; Genotype ; Humans ; Neurology ; Odds Ratio ; Penetrance ; Phenotype ; Polymorphism, Single Nucleotide* ; Seizures, Febrile*

PURPOSE: Juvenile myoclonic epilepsy, juvenile absence epilepsy, and epilepsy wth generalized tonic clonic seizure (GTCS) on awakening are the three syndromes of idiopathic generalized epilepsy of adolescent onset currently included in the classification of epilepsy syndromes of the International League Against Epilepsy (ILAE). Although they differ in their predominant seizure types, the syndromes share several seizure types. Also, there are no unique electrophysiologic or genetic markers. The question of phenotypic overlap and purity have arison. METHODS: We diagnosed 60 patients as idiopathic generalized epilepsy in Seoul National University Children's Hospital from August 1987 to June 1993 were analyzed in aspects of seizure types, electroencephalographic findings and follow up results. Their onset age of seizure was over 8 year old and the follow-up period was minimum 3 year. RESULTS: 1) seizure types : Four groups were defined by seizure type. The group with absence but not myoclonic (group A) were 19 cases (31.7%) and the group with myoclonic but not absence (group B), 12 cases (20.0%), the group with absence and myoclnic (Group C), 4cases (6.7%), and the group with GTCS only (Group D), 25 cases (41.6%). There was a tendency in that absence begins earlier and myoclonic seizure later in each group. 2) epilepsy syndromes : We could classify as 20 cases (33.3%) of jevenile absence epilepsy, 15 cases (15%) of jevenile myoclonic epilepsy, 5 cases (8.4%) of epilepsy with generalized tonic clonic on awakening, and 20 cases (33.3%) of isolated generalized tonic clonic seizure. 3) EEG characteristics by seizure type : 3-4Hz generalized bursts were most frequent in group A (p<0.05) and polyspike discharges were more frequent in group B than group A (p<0.05). The response to photic stimulation were more frequently observed in group B than group A. There was no significant differences in response to hyperventilation between group A and B. CONCLUSION: To define the combination of seizure types occurred in intervals make easy to approach the diagnosis and treatment of idiopathic generalized epilepsy syndromes. We found that the current classification does not include all patients such as isolated generalized tonic clonic seizure in this study. We can expect information from the fields of molecular genetics and neuroimaging to help to define the etiologic basis of many epilepsies and perhaps to refine the present system of classification, more etiologically oriented and disease-specifically.
Adolescent ; Age of Onset ; Child ; Classification ; Diagnosis ; Electroencephalography* ; Epilepsies, Myoclonic ; Epilepsy ; Epilepsy, Absence ; Epilepsy, Generalized* ; Follow-Up Studies ; Genetic Markers ; Humans ; Hyperventilation ; Molecular Biology ; Myoclonic Epilepsy, Juvenile ; Neuroimaging ; Photic Stimulation ; Seizures* ; Seoul

Unverricht-Lundborg disease(Baltic myoclonus) is one of the major causes of progressive myoclonus epilepsy. It is characterized by stimulus sensitive myoclonic seizure, generaized tonic-clonic seizure, generally synchronous polyspike and wave discharges on EEG and absence of severe or early dementia. It has usually been described in the countries around the Baltic area. But recently, it is regarded as the most common form of progressive myoclonus epilepsy in the other countries as well. We report, with the review of the literature, two patients who showed the typical features of this disorder.
Dementia ; Electroencephalography ; Humans ; Myoclonic Epilepsies, Progressive ; Seizures ; Unverricht-Lundborg Syndrome*

PURPOSE: The majority of patients with idiopathic generalized epilepsy (IGE) are controlled by an antiepileptic drug when appropriately selected. So far, valproate is regarded as the first-line treatment for IGE. Also, it is postulated that lamotrigine and topiramate may have efficacy in IGE but there are a few evidence to support the usage. We examined the remission rates of seizures on valproate, lamotrigine, topiramate and factors predicting the outcome. METHODS: We reviewed the patients who diagnosed as IGE in pediatric neurology clinics in Asan Medical Center from March, 1995 to August, 2005. The patients with childhood absence epilepsy and patients without generalized spike and slow waves in EEG were excluded. Data were collected retrospectively on demographics, seizure types, antiepileptic drug treatment details, and remission rates. RESULTS: 64 of 80 patients had achieved one year period of remission by monotherapy with following drugs: Valproate (73.7% of 38 patients), lamotrigine (72.4% of 29 patients) or topiramate (83.3% of 18 patients). Among patients who failed to achieve remission by monotherapy, the combination of the drugs showed a remission rate of 72.7% (8/11 patients). Factors such as age, sex, family history, and history of febrile convulsions did not affect the remission rates. The existence of photoparoxysmal responses or focal epileptiform discharges, and syndrome diagnoses also couldn't be the predictive factors as well. CONCLUSIONS: As in adult patients with IGE, topiramate and lamotrigine as well as valproate can be used as the most effective anti-epileptic drugs in children with IGE without significant side effect.
Adult ; Child ; Chungcheongnam-do ; Demography ; Diagnosis ; Electroencephalography ; Epilepsy, Absence ; Epilepsy, Generalized* ; Humans ; Immunoglobulin E ; Neurology ; Retrospective Studies ; Seizures ; Seizures, Febrile ; Valproic Acid*

BACKGROUND: Epilepsy and antiepileptic drugs may be associated with cognitive dysfunction. P300 event-related potentials have been used to assess cognitive function. In this study we investigated the effect of antiepileptic drugs on P300 event-related potentials in epileptic patients. METHODS: P300 latency in event-related potentials was recorded during an auditory oddball paradigm in 29 patients, 10 with generalized epilepsy and 19 with partial epilepsy. The relationships between antiepileptic drugs and P300 latency prolongation were analyzed. RESULTS: P300 latency was prolonged in 31% (9/29) patients with epilepsy. There were no significant relationships between etiology of epilepsy, type of seizure, or type of antiepileptic drugs and P300 latency prolongation. The number or serum level of antiepileptic drugs and treatment duration were related to latency prolongation, but these relations were not significant. CONCLUSION: The prolongation of P300 latency in event-related potentials is not significantly related to antiepileptic drug. This finding suggests that P300 may not be a sensitive additional procedure to assess the cognitive status in epileptic patients.
Anticonvulsants* ; Epilepsies, Partial ; Epilepsy ; Epilepsy, Generalized ; Event-Related Potentials, P300 ; Evoked Potentials* ; Humans ; Seizures

PURPOSE: The GABAergic system has long been implicated in epilepsy with defects in GABA neurotransmission linked to epilepsy in both experimental animal models and human syndromes. Recently, mutations in the GABA(A) receptor gamma 2 subunit (GABRG2) gene were identified in two families with generalized epilepsy with febrile seizures plus(GEFS+) and two families with childhood absence epilepsy and febrile seizures. We tested the hypothesis that genetic variations in the GABRG2 gene confer susceptibility to febrile seizure in the Korean population. METHODS: A total of 22 febrile seizure patients with or without afebrile seizures were selected. To identify unknown mutations in GABRG2 gene, a total of nine exons were amplified and screened by DHPLC method. DNA fragments showing abnormal DHPLC elution patterns were subsequently sequenced. RESULTS: Among 22 febrile seizure patients, 5 patents(23%) were familial and 7 patients were sporadic cases. And 17(77%) experienced afebrile seizures and 5 patients didn't. Seizure types of 17 febrile patients with afebrile seizure were 13 idiopathic generalized epilepsies, 1 juvenile myoclonic epilepsy, 1 childhood absence epilelsy and 2 complex partial seizures. We identified two single nucleotide polymorphisms in exon 1 and exon 3. In exon 1, C69C/T polymorphism(dsSNP:3219203) was identified in 4 patients, which had already been reported. In exon 3, C541C/T polymorphism was identified in nine patients and eight patients showed C/T hetero forms and one patient showed T/T homo mutant form. This C541C/T allelic variations were novel and identified in febrile seizure patients with afebrile seizures. But this variation didn't show significant correlations with febrile seizure patterns or family history of patients. CONCLUSION: Our study identified two exonal polymorphisms and one is novel. The GABRG2 gene seems to confer a rare rather than a frequent major susceptility effect to febrile seizure.
DNA ; Epilepsy ; Epilepsy, Absence ; Epilepsy, Generalized* ; Exons ; gamma-Aminobutyric Acid ; Genes, vif ; Genetic Variation ; Hominidae ; Humans ; Models, Animal ; Myoclonic Epilepsy, Juvenile ; Polymorphism, Single Nucleotide ; Receptors, GABA-A ; Seizures ; Seizures, Febrile* ; Synaptic Transmission