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*

Unverricht-Lundborg disease (ULD) is a form of progressive myoclonus epilepsy characterized by stimulation-induced myoclonus and seizures. This disease is an autosomal recessive disorder, and the gene CSTB, which encodes cystatin B, a cysteine protease inhibitor, is the only gene known to be associated with ULD. Although the prevalence of ULD is higher in the Baltic region of Europe and the Mediterranean, sporadic cases have occasionally been diagnosed worldwide. The patient described in the current report showed only abnormally enlarged restriction fragments of 62 dodecamer repeats, confirming ULD, that were transmitted from both her father and mother who carried the abnormally enlarged restriction fragment as heterozygotes with normal-sized fragments. We report the first case of a genetically confirmed patient with ULD in Korea.
Blotting, Southern ; Cystatin B ; Cysteine Proteases ; Diagnosis* ; Europe ; Fathers ; Heterozygote ; Humans ; Korea* ; Mothers ; Myoclonic Epilepsies, Progressive ; Myoclonus ; Prevalence ; Seizures ; Unverricht-Lundborg Syndrome*

Dravet syndrome is a rare and catastrophic type of epilepsy in infants. Acute encephalopathy has been sporadically reported in patients with Dravet syndrome; however, the risk factors for this serious complication have not been identified. We report two patients with a clinical diagnosis of Dravet syndrome who experienced acute encephalopathy initiated by refractory status epilepticus. SCN1A mutational analysis revealed a previously reported nonsense mutation in one patient and a novel missense mutation in the other. Analysis of our cases and previously published cases revealed that patients with Dravet syndrome who have a more severe phenotype have an increased likelihood of developing acute encephalopathy compared with patients with less severe phenotypes.
Epilepsies, Myoclonic

Myoclonus epilepsy and ragged-red fiber (MERRF) syndrome is one of the common etiologies of progressive myoclonus epilepsy. The clinical features of MERRF syndrome are myoclonus, seizure, dementia, ataxia, neuropathy, myopathy, deafness, and lipouta. The patients with MERRF syndrome have a point mutation in mitochondrial DNA at 8344 or 8356 nucleotide. We are reporting a patient who developed myoclonus and seizure at the age of eighteen. He later showed cerebellar ataxia, peripheral neuropathy, and cognitive dysfunction. Skeletal muscle biopsy failed to demonstrate ragged-red fibers. He was diagnosed as MERRF syndrome by the mitochondrial DNA analysis. He had 86% mutant mitochondrial genomes (A-)G(8%) mutation) in leukocytes, and his asymptomatic mother had 66%. The absence of ragged-red fibers does not rule out the possibility of MERRF syndrome. Demonstration of mitochondrial DNA mutation is the most convincing method for establishing the diagnosis of MERRF.
Ataxia ; Biopsy ; Cerebellar Ataxia ; Deafness ; Dementia ; Diagnosis ; DNA, Mitochondrial ; Epilepsies, Myoclonic* ; Genome, Mitochondrial ; Humans ; Leukocytes ; MERRF Syndrome ; Mothers ; Muscle, Skeletal ; Muscular Diseases ; Myoclonic Epilepsies, Progressive ; Myoclonus* ; Peripheral Nervous System Diseases ; Point Mutation ; Seizures

No abstract available.
Epilepsies, Myoclonic* ; Neuroblastoma*

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

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

Lafora's disease is one of the major causes of progressive myoclonic epilepsy. The main clinical manifestrations are epilepsy, both generalized and focal, severe and progressive myoclonus, progressive dementia and cerebellar sign, then leading to death within 2-10 years. The definite diagnosis depends on the detection of the characteristic PAS positive inclusions, which are present in various tissues including the brain, liver, muscle and skin. We presented two brothers who showed typical clinical features of this disorder, confirmed by skin and muscle biopsy.
Biopsy ; Brain ; Dementia ; Diagnosis ; Epilepsy ; Humans ; Liver ; Myoclonic Epilepsies, Progressive ; Myoclonus ; Siblings ; Skin

Adult ; Humans ; Male ; Myoclonic Epilepsies, Progressive ; diagnostic imaging ; genetics ; therapy ; Nerve Tissue Proteins ; genetics ; Pedigree

Patients with dentatorubral-pallidoluysian atrophy occasionally elicit psychosis. So far, one study reported first generation antipsychotics drugs may provide an effective treatment; however, there is no literature on the benefits of second generation antipsychotics. We report on a 44-year-old man with dentatorubral-pallidoluysian atrophy whose psychotic symptoms were effectively treated with olanzapine. Our observation suggests some second generation antipsychotics provide a therapeutic option for ameliorating psychosis in dentatorubral-pallidoluysian atrophy.
Adult ; Antipsychotic Agents ; Humans ; Myoclonic Epilepsies, Progressive* ; Psychotic Disorders* ; Spinocerebellar Degenerations