Humans ; Epilepsies, Myoclonic/diagnosis* ; NAV1.1 Voltage-Gated Sodium Channel

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 ; Aged ; Chromosome Aberrations ; Epilepsies, Myoclonic ; diagnosis ; genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree

OBJECTIVEEpilepsy with myoclonic absences (EMA) is a type of childhood epilepsy characterized by a specific seizure type, i.e. myoclonic absences (MA). This study aimed to investigate the clinical and electrophysiological characteristics of EMA.

METHODVideo-EEG monitoring was carried out in 6 patients with EMA, and 2 of them were examined with simultaneous deltoid muscle surface electromyogram (EMG). The clinical and EEG characteristics, treatment and prognoses of EMA were analyzed.

RESULTOf the 6 patients, 3 were female, and 3 were male. The age of onset was from 2 years and 3 months to 11 years (average 5 years and 2 months). MA was the sole seizure type in 5 patients. One patient presented generalized tonic clonic seizures (GTCS) at the onset and then switched to MA. The manifestations of MA included an impairment of consciousness of variable intensity, rhythmic myoclonic jerks with evident tonic contraction mainly involving the upper extremities, a deviation of head and body to one side or asymmetrical jerks observed in some cases, a duration ranging from 2 to 30 s, an abrupt onset and termination, a high frequency of attacks, at least several times to over 30 times per day, and easily provoked by hyperventilation. The ictal EEG consisted of rhythmic 3 Hz spike and wave discharges that were bilateral, synchronous and symmetrical in all patients. The deltoid muscle EMG recording in 2 patients showed rhythmic myoclonus at the same frequency as the spike and waves. The interictal EEG showed generalized spike and wave discharges in all patients, and focal discharges in some patients. Valproate was the drug of choice, which was often combined with other antiepileptic drugs. The ages at follow up ranged from 6 years and 4 months to 19 years. Seizures were controlled from 8 months to 3 years in 4 cases. The treatment at the onset was late in one case and was irregular in another who had GTCS during the course of the disease. These two cases were followed up for 2 years and 6 months and 5 years, respectively. Seizures could not be controlled in the 2 patients with intellectual impairment.

CONCLUSIONEMA was a rare type of childhood epilepsy characterized by MA. Clinical observation and ictal video-EEG and EMG were essential to diagnose EMA. Valproate alone or combined with other antiepileptic drugs given early could have a favorable effect to EMA. Delayed therapy and the presence of GTCS might suggest poor prognosis.

Child ; Child, Preschool ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic ; diagnosis ; physiopathology ; Female ; Humans ; Male ; Prognosis ; Retrospective Studies

The myoclonic epilepsies of infancy and early childhood pose the most difficult problems in the diagnosis and classification of epilepsies because they are often confused with the Lennox-Gastaut syndrome sharing a number of common features. However, their correct differentiation is easily justifiable because some of the myoclonic epilepsies of early childhood have better prognosis than the Lennox-Gastaut syndrome. We experienced and treated a 4-year-old boy who had normal intellectual function but frequent myoclonic and generalized clinic-tonic-clinic seizures, which were successfully controlled by anti-epileptic drugs. Hence we report a case with brief review of literatures.
Child, Preschool ; Classification ; Diagnosis ; Epilepsies, Myoclonic* ; Epilepsy ; Humans ; Male ; Prognosis ; Seizures

OBJECTIVETo explore the characteristics of various seizure types in infantile spasm (IS) and to recognize the clinical and electrophysiological differences among spasm, myoclonic and tonic seizures.

METHODSTotally 681 seizures of 8 infants with IS were analyzed, including 20 episodes of non-cortical myoclonus which were finally ruled out by video-electroencephalogram-electromyogram polygraphic recordings (VEEG-EMG) and off-line analysis of jerk-locked back averaging (JLA). As a control, the data of 58 myoclonic seizures collected from an infant with Aicardi syndrome within two months before his typical clinical presentations of IS were also analyzed.

RESULTSThree types of seizures were recorded from the 8 infants, including spasm, myoclonic and tonic seizures with the incidence of 94.4%, 4.5%, and 1.1%, respectively. Spasms were mostly presented as body muscle contraction axially, which often occurred in clusters and evolved in a crescendo-decrescendo manner; 85.7% of them lasted for 0.4 - 3.0 s and 14.3% for 3 - 7 s. In addition, there were 273 seizures which were identified as subtle spasms according to their ictal EEG with high voltage slow wave (HVS) and fast wave bursts in most. There was no constantly time-locked EEG correlating to spasms even when JLA was applied for analysis. Myoclonic seizures were shock-like muscle constraction lasting for less than 400 ms with or without visible epileptic discharges in its ictal EEG. However, there was a time-locked cortical discharge discerned by JLA in epileptic myoclonus. Tonic seizures were consisted of sustained muscle contractions involving limbs and trunk, lasting for more than 3 s. Its ictal EEGs were more likely low amplitude fast waves and medium amplitude theta activities. Some spasms, named as tonic spasm, could be distinguished from tonic seizure according to the seizure duration which was always less than 2 s in tonic spasms and their different EEG patterns.

CONCLUSIONSThere were various seizure types in IS but spasm was the predominant one. With polyneuroelectrophysiological tests including EEG-EMG and JLA, it would be much helpful to precisely recognize the different common seizure types including spasm, tonic spasm, myoclonic and tonic seizure during infancy which is important for the diagnosis, classification and treatment of infantile epilepsy.

Brain ; physiopathology ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; Female ; Humans ; Infant ; Male ; Seizures ; diagnosis ; Spasm ; diagnosis ; Spasms, Infantile ; diagnosis ; physiopathology ; Videotape Recording

Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Prognosis ; Spasms, Infantile ; diagnosis ; Time Factors

OBJECTIVETo summarize the electroclinical characteristics of myoclonic atonic epilepsy (MAE) in children.

METHODThe clinical data, video electroencephalogram (EEG) and simultaneous electromyography (EMG) of MAE patients were analyzed. The treatment and its effects were followed up.

RESULTIn 47 MAE patients, 25 had a history of febrile seizures (FS), 20 had a family history of FS or epilepsy. All patients had a normal development before the illness. The age of afebrile seizure onset was between 1.4 years to 5.8 years. The first seizure was generalized tonic-clonic seizure (GTCS) in 41 patients (87.2%). All patients had multiple seizure types, including 47 GTCS (97.9%), 34 myoclonic atonic seizures (72.3%), 47 myoclonic seizures (100%), 32 atonic seizures (68.1%), 36 atypical absences (76.6%) and 3 tonic seizures (6.4%). EEG backgrounds were slow or parietal θ rhythm, interictal EEG showed 1-4 Hz (predominant 2-3 Hz) generalized spike and wave or poly spike and wave discharges in all cases. Seizures were controlled by antiepileptic drugs (AEDs) in 41 patients (87.2%). Valproate was used in 37. Lamotrigine was used in 26. Mild mental retardation was observed in 10 children after the onset of the illness.

CONCLUSIONThe clinical features of MAE included the following: the development was normal before the onset of the illness; the onset of seizure type was often GTCS. All patients had multiple generalized seizure types. Myoclonic atonic seizure was its characteristic seizure type. EEG showed generalized discharges. Early diagnosis and rational choice of AEDs are important for getting a better prognosis.

Child ; Child, Preschool ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; physiopathology ; therapy ; Epilepsy, Generalized ; diagnosis ; physiopathology ; therapy ; Female ; Humans ; Infant ; Male

OBJECTIVETo investigate clinical characteristics, EEG changes and therapeutic response of benign infantile epilepsy and to study the early diagnostic methods.

METHODSClinical observation and Video-EEG monitoring were carried out in babies with convulsions at 3 - 24 months of age. In these children, febrile convulsion, symptomatic epilepsies and developmental abnormalities were excluded, and the therapeutic effect and long-term outcome were followed up.

RESULTSForty-two babies were diagnosed to have benign infantile epilepsy by two-year follow-up. Three of them had familial history of benign infantile convulsions. Nineteen percent had mild diarrhea during the onset of convulsions, cluster seizures occurred during a short period in 67% of cases and no status epilepticus occurred. Video-EEG monitoring confirmed seizures originating from temporal, occipital or multifocal areas separately in 3 patients with partial seizures. Interictal EEG background was normal and there were Rolandic small spikes during sleep in 24% of patients. Thirty-nine patients were treated with single antiepileptic drugs and the mean treatment course was 9 months. Three cases did not take medicine. All the patients were seizure free within a year.

CONCLUSIONBenign infantile epilepsy should be considered when the following characteristics occur in early stage of the disease: (1) convulsions occurring between 3 to 12 month of age and not later than 24 months of age with or without familial history of benign infantile convulsion; (2) normal psychomotor development before and after convulsion occurs; (3) no evoked factors or only mild diarrhea; (4) majority of cases have partial seizures, or secondary generalized seizures. There are often cluster convulsions during the onset stage, but no status epilepticus; (5) normal EEG background and there may be Rolandic small spikes during sleep; (6) normal neuroimaging.

Anticonvulsants ; therapeutic use ; Diagnosis, Differential ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; drug therapy ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Treatment Outcome

PURPOSE: Severe myoclonic epilepsy in infancy (SMEI) seems to be more common than realized, because it is often overlooked. In addition, the prognosis is poor despite of recent advances of antiepileptic treatment. This study is intended to provide better identification and treatment of SMEI by reviewing our experiences. METHOD: From April 1995 to September 2002, clinical and electrophysiologic features were reviewed for 18 patients with SMEI, who were diagnosed at epilepsy center, Inje University Sang-gye Paik Hospital. RESULTS: 1) Seizure onset age was 5.1+/-2.8 months (mean+/-SD) old. 2) Onset of febrile seizure was from 2 to 11 months of age (7.8+/-3.0 months) and febrile status epilepticus was also noted in 9 patients (50%). 3) Initial afebile seizure was noticed in 11 patients (61.1%). 4) Various types of seizures were manifested durign the patient's clinical courses 5) Myoclonic seizures were started from 7 to 48 months of age (26.5+/-12.1 months) and persisted in 14 (77.8%) patients. 6) Four patients (22.2%) had photosensitivity. 7) Mitochondrial cytopathy was suspected in 8 patients, and complex IV deficiency was confirmed in 1 patient. 8) Ketogenic diet was effective in 8 patients (61.5%) with seizure reduction more than 50% among 13 patients. 9) All sixteen patients who could be followed up for more than 12 months, showed normal initial development, and subsequently, all of them showed progressive delvelopmental delay with mild degree in 4 patients (22.2%), moderate degree in 7 patients (38.8%), and severe degree in 4 patients (22.2%). CONCLUSION: SMEI is one of the intractable childhood epileptic syndromes with variable clinical seizures and progressive developmental declining. SMEI should be paid more attention in epilepsy clinic for accurate diagnosis and adequate antiepileptic treatment including ketogenic diet.
Age of Onset ; Cytochrome-c Oxidase Deficiency ; Diagnosis ; Epilepsies, Myoclonic* ; Epilepsy ; Humans ; Ketogenic Diet ; Prognosis ; Seizures ; Seizures, Febrile ; Status Epilepticus