Juvenile myoclonic epilepsy(JME) of Janz is a syndrome of generalized age related epilepsy with increasing incidence and probable autosomal recessive trait. We have experienced 2 female patients who had awakening myoclonus in both arms, which had started in their early 10th. The patterns of seirures and electroencephalographic findings were consistent with those of JME which had been first described as impulsive petit mal by Janz. We report these cases with brief review of literatures.
Arm ; Epilepsy ; Female ; Humans ; Incidence ; Myoclonic Epilepsy, Juvenile* ; Myoclonus

BACKGROUND: In order to investigate the structural abnormalities in juvenile myoclonic epilepsy (JME), the volumes of the hippocampus and frontal lobe were measured. METHODS: Nineteen JME patients and 19 age- and sex-matched normal controls underwent a 1.6 mm thick brain SPGR MRI. The volumes of the frontal lobe and hippocampus were measured with a volume of interest method. The differences of volumes between JME and normal groups were compared. The volumes were also compared between the early and late onset groups, and between the short and long seizure duration groups. The correlations between the volumes of the frontal lobe, hippocampus, or mid-sagittal area of the corpus callosum, and the age of seizure onset or the duration of disease were tested. RESULTS: The cerebral volume was not found to be different between the JME and normal groups (p=0.521). The left hippocampus was significantly smaller in the JME group (p=0.032) while the left frontal lobe was significantly larger in the JME group (p=0.004). The area of the rostral body of corpus callosum showed a significant positive correlation with the age of onset (r=0.561, p=0.012). The right frontal lobe volume showed a significant negative correlation with the duration of disease (r=-0.511, p=0.025). CONCLUSIONS: These results imply that JME has volume changes in the frontal lobe and hippocampus. The volume reduction of the right frontal lobe in patients with a longer disease duration may suggest a progressive nature of JME. The smaller rostral body of the corpus callosum in patients with earlier seizure onset may suggest an ontogenic abnormality of JME.
Age of Onset ; Brain ; Corpus Callosum ; Frontal Lobe* ; Hippocampus* ; Humans ; Magnetic Resonance Imaging ; Myoclonic Epilepsy, Juvenile* ; Seizures

PURPOSE: The purpose of this study was to evaluate the efficacy and tolerability of extended-release valproic acid once daily dosing in juvenile myoclonic epilepsy (JME). METHODS: Medical records of patients who received valproic acid monotherapy for the treatment of JME were retrospectively reviewed. Their clinical information regarding age, gender, seizure types, underlying neurologic status, dosing regimen, response to treatment, and adverse events related to valproic acid, were analyzed. Seizure control, compliance, and adverse events rates were compared between the group of once daily dosing and the group of twice daily dosing. RESULTS: Twenty one patients (11 boys and 10 girls) were included in the study. Twelve patients were taking valproic acid extended-release once daily and nine patients were taking twice a day. More than 50% decrease in myoclonic seizure was achieved in all the patients in both groups. Generalized tonic-clonic seizure was controlled in all the patients who were taking once daily while 3 patients (36%, 3/8 patients) in twice daily group had breakthrough generalized tonic clonic seizures during the 2 year period of treatment. However, there were no statistically significant differences in seizure control, compliance, and adverse event rates between the two groups. CONCLUSION: This study demonstrated that valproic acid extended-release once daily dosing was as effective and tolerable as twice daily in the treatment of JME. Once daily dosing of valproic acid would be convenient which improve patient compliance and consequently bring better outcome in treatment of JME.
Compliance ; Humans ; Medical Records ; Myoclonic Epilepsy, Juvenile* ; Patient Compliance ; Retrospective Studies ; Seizures ; Valproic Acid*

No abstract available.
Acidosis, Lactic ; Brain Diseases ; Humans ; Myoclonic Epilepsy, Juvenile ; Wolff-Parkinson-White Syndrome

BACKGROUND AND PURPOSE: We investigated the cognitive change of patients with juvenile myoclonic epilepsy (JME) after a long-term antiepileptic drug(s) (AED) administration to clarify the cause of cognitive impairment. METHODS: Thirty-three patients with JME who were newly diagnosed or did not take any AED for at least 6 months prior to the beginning of the study were included. We conducted neuropsychological tests at baseline and after at least 12 months of AEDs trial. Forty healthy controls were acquired according to age- and education-match to patients with JME. We compared the differences of neuropsychological outcomes among them. We tried to identify the determinants for cognitive performances after AEDs trial. RESULTS: Twenty-seven patients completed the second neuropsychological tests. Seizure frequency and EEG abnormality were significantly decreased after AEDs intake. The Number of epileptiform discharges (EDs) on EEG tended to be decreased at last visit. However, cognitive performances between baseline and follow-up period were not different. Cognitive measures of baseline and follow-up period were worse than those of controls in list learning, forward digit span, backward digit span, Trail Making Test, and verbal fluency. Cognitive performances of follow-up period in the JME group were not correlated with age at seizure onset, duration of epilepsy, seizure recurrence, EEG abnormality, and type of AEDs. CONCLUSIONS: Cognitive performances of JME were not recovered to the level of healthy controls despite the control of seizures and EDs by AEDs. Therefore, cognitive impairment of JME may be due to irreversible, disease-related characteristics.
Cognition ; Electroencephalography ; Epilepsy ; Follow-Up Studies ; Humans ; Learning ; Myoclonic Epilepsy, Juvenile ; Neuropsychological Tests ; Recurrence ; Seizures ; Trail Making Test

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: The brain MRI findings of juvenile myoclonic epilepsy (JME) usually appears normal upon visual inspection. The purpose of this study is to analyze the distributions of gray matter (GM) and white matter (WM) features with voxel based morphometry (VBM). METHODS: Nineteen JME patients and 19 age and sex matched normal subjects underwent a volumetric MRI study. The MRIs were spatially normalized to our T1 template and segmented into GM, WM and CSF. The spatially normalized and segmented images were smoothed. The smoothed images of GM and WM were analyzed with t-tests. Statistical nonparametric mapping (SnPM) was also used without the assumption of normality. RESULTS: At the level of uncorrected p<0.05, there were brain regions with significantly decreased or increased GM and WM distributions in JME patients compared to those of the normal controls. GM decreased in the left dorsolateral-prefrontal lobe (p=0.005), both medial prefrontal lobes (p=0.01), both medial orbito-frontal lobes (p=0.005), and left middle inferior temporal gyrus (p=0.005) while GM increased in both putamina (right: p=0.005, left: p=0.01), right caudate nucleus (p=0.005), right antero-superior temporal gyrus (p=0.005), both medial parietal lobes (p=0.005), and both medial occipital lobes (p=0.005). WM decreased in the right internal capsule (p=0.005), left internal capsule (p=0.05), and left temporal stem (p=0.05) whereas WM increased in the right temporal stem (p=0.05) and both occipital areas (p=0.001). CONCLUSIONS: JME patients appear to have abnormal distributions of GM and WM in their brains. However, it is not determined whether this finding is an ontogenical abnormality or seizure related problem.
Brain ; Caudate Nucleus ; Humans ; Internal Capsule ; Magnetic Resonance Imaging ; Myoclonic Epilepsy, Juvenile* ; Occipital Lobe ; Parietal Lobe ; Seizures

PURPOSE: The aim of the this study was to verify the efficacy of the occipital nerve block (ONB) for occipital neuralgia pediatric patients who has tender point around suboccipital area. METHODS: In a retrospective way, 47 pediatric patients with occipital neuralgia were enrolled during July 2005 to July 2013. Diagnosis of occipital neuralgia is made by the International headache society criteria (2004, 2nd edition). We conducted a chart review of all the ONB performed in our clinic over 9 years. Patients were analyzed according to gender, headache type, headache duration and frequency, family history, medication history before ONB, symptoms with headache, recurrence, complications, magnetic resonance imaging scan and electroencephalogram results. Headache was measured before and after the procedure using the visual analog pain indexes. RESULTS: Forty seven (100%) patients were treated with occipital nerve block. Pain indexes were declined in 41 (87.2%) patients, but 6 (12.8%) were not response. Mean visual analog pain index scores declined by 4.7 units. Twenty five (53.2%) patients experienced recurrence of the disorder, but 14 (56.0%) patients were relived without the need for any further treatment. No complications were reported. CONCLUSION: Our data suggests that occipital nerve block was safe and effective treatment for the children with occipital neuralgia.
Child ; Diagnosis ; Electroencephalography ; Headache ; Humans ; Magnetic Resonance Imaging ; Myoclonic Epilepsy, Juvenile* ; Nerve Block ; Neuralgia ; Recurrence ; Retrospective Studies ; Valproic Acid*

BACKGROUND: To investigate the change of corpus callosal area in juvenile myoclonic epilepsy (JME), the mid-sagittal areas of corpus callosum and its seven sub-regions were measured in JME patients and normal subjects. METHODS: Nineteen JME patients (22.6+/-5.0 year-old, 6 males, 13 females) and 19 normal controls (22.9+/-7.3 year-old, 6 males, 13 females) underwent 1.6 mm thickness whole brain SPGR MRI. Exact mid-sagittal image was obtained with image reconstruction and geometric correction. According to Witelson's work, the area of corpus callosum was divided into 7 sub-regions (a1 to a7 from anterior to posterior) with a semi-automated method. In each sub-region, the pixel number was counted according to ROI definition. The whole cerebral volume was measured. The mid-sagittal cerebral area was measured by tracing inner surface of skull and basal cortical surface of the cerebrum except for corpus callosum and cerebellum. The difference of corpus callosum areas between JME patients and normal controls were tested by t-test and ANCOVA. RESULTS: There was no difference in sex [chi-square(1)=1.00, chi square] and age (p=0.941, Mann-Whitney U test). The areas of rostrum (p<0.001) and rostral body (p < or = 0.05) were significantly smaller in JME group by t-test and ANCOVA (adjusted by age and cerebral volume). Cerebral volume and mid-sagittal cerebral area were not different between JME and normal groups (p>0.25, t-test). CONCLUSION: Rostrum and rostral body are significantly smaller in JME patients, which suggests frontal lobe abnormality in JME. This finding is consistent with previous studies reported structural and functional abnormalities of frontal lobe in JME.
Brain ; Cerebellum ; Cerebrum ; Corpus Callosum ; Frontal Lobe ; Humans ; Image Processing, Computer-Assisted ; Magnetic Resonance Imaging* ; Male ; Myoclonic Epilepsy, Juvenile* ; Skull

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