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

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*

No abstract available.
Adult ; Anticonvulsants/therapeutic use ; Bone Marrow/*pathology ; Epilepsies, Myoclonic/complications/*diagnosis/drug therapy ; Female ; Gaucher Disease/complications/*diagnosis/drug therapy ; Glucosylceramidase/genetics/therapeutic use ; Humans ; Phenotype ; Point Mutation ; Recurrence

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

OBJECTIVETo analyze the clinical diagnosis and treatment process of narcolepsy and epilepsy co-existence, and thereby to improve awareness of such cases.

METHODThe clinical manifestations of 2 cases were observed, and video-electroencephalogram (VEEG), multiple sleep latency tests (MSLT) were performed. Hypocretin 1 level in cerebrospinal fluid was examined in one case.

RESULTThe onset of disease of case one was started with epilepsy with myoclonic seizure. After half a year, catalepsy induced by emotion especially laughing and excessive daytime sleepiness appeared. MSLT was positive and hypocretin 1 level decreased. Narcolepsy-cataplexy was definitely diagnosed in this case. Valproate was given and seizure was controlled completely, but the excessive daytime sleepiness was aggravated. Combination of valproate, methylphenidate and clomipramine treatment improved the symptoms of narcolepsy and the patient was still free of epileptic seizures. The onset symptoms of case 2 were catalepsy and excessive daytime sleepiness. MSLT was positive. The treatment was ineffective because of bad compliance. After 2 years, episodes of impairment of consciousness with automatism occurred. VEEG showed slow waves and spikes in right temporal area. Complex partial seizure was determined. Oxcarbazepine was used and then the patients became seizures free, but the symptoms of narcolepsy were still obvious.

CONCLUSIONComorbidity of narcolepsy and epilepsy is a rare phenomenon. Clinical symptoms, predisposing factor, VEEG and MSLT can help diagnosis and differential diagnosis. The antiepileptic drugs might aggravate drowsiness. Based on therapy of epilepsy by using antiepileptic drugs, low dosage of central nervous system stimulants might improve the drowsiness and catalepsy symptoms of narcolepsy.

Adolescent ; Anticonvulsants ; administration & dosage ; therapeutic use ; Brain Waves ; physiology ; Central Nervous System Stimulants ; administration & dosage ; therapeutic use ; Child ; Comorbidity ; Diagnosis, Differential ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; drug therapy ; physiopathology ; Epilepsy ; diagnosis ; drug therapy ; physiopathology ; Humans ; Intracellular Signaling Peptides and Proteins ; cerebrospinal fluid ; Male ; Narcolepsy ; diagnosis ; drug therapy ; physiopathology ; Neuropeptides ; cerebrospinal fluid ; Orexins ; Polysomnography ; Sleep Stages ; physiology ; Treatment Outcome

OBJECTIVETo investigate genetics and clinical characteristics of dentatorubral-pallidoluysian atrophy (DRPLA) in Chinese kindreds.

METHODSFragment analysis with laser-induced fluorescence in capillary electrophoresis was performed for the cytosine-adenine-guanine (CAG) repeats of DRPLA gene in 708 probands of autosomal dominant ataxia pedigrees and 119 sporadic ataxia cases.

RESULTSExpanded CAG repeats of DRPLA gene were detected in probands of three ataxia pedigrees, with the numbers of repeats being 16/58, 16/58 and 14/54, respectively. In addition to ataxia, patients with adult-onset disease also exhibited spasm and neck torsion.

CONCLUSIONOnly three cases of DRPLA have been identified among 827 cases, which suggested that DRPLA is a relatively rare subtype of SCA in Chinese population. Clinical variation among the patients suggested DRPLA has a wide spectrum of phenotype.

Adolescent ; Adult ; Aged ; Asian Continental Ancestry Group ; Brain ; pathology ; Child ; Child, Preschool ; China ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Mutation ; Myoclonic Epilepsies, Progressive ; diagnosis ; genetics ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Trinucleotide Repeats ; Young Adult

OBJECTIVEThe study was designed to examine the clinical and electroencephalographic characteristics of children with Jeavons syndrome.

METHODVideo-electroencephalography (VEEG) monitoring was carried out in 9 patients with Jeavons syndrome. The clinical and electroencephalographic characteristics, treatment and prognoses were analyzed.

RESULTOf the 9 patients, 8 were female, and 1 was male. The onset age of children with eyelid myoclonia (EM) was from 3 to 9 years old. It was obtained through the chief complaint, prosecution or VEEG monitoring. Three cases were misdiagnosed and 2 cases were overlooked initially. Seven out of 9 patients had generalized tonic clonic seizures (GTCS) during the course of disease, of whom 5 experienced only one episode. GTCS was the cause for the first visits to hospital in 5 patients. Since the clinical manifestations of EM with or without absence were often slight, VEEG monitoring with eye closure and intermittent photic stimulation tests helped to induce discharges and seizures. Eye closure was more potent than intermittent photic stimulation as a triggering factor. Ictal EEG showed 3 - 6 Hz generalized spike and waves and polyspikes burst. The main treatment option was valproate monotherapy (6 cases) or combined with other antiepileptic drugs (1 case). Levetiracetam, lamotrigine and topiramate were also used in patients and effective to some degree. Two patients lost follow up. The age of 7 patients at follow-up ranged from 9 y to 15 y. Seizures were controlled in 1 case, suspiciously controlled in 1 case, decreased in frequency in 4 cases and were still frequent in 1 case. During follow-up, normal intelligence was found in the former 2 cases, difficult learning in 2 cases, and slightly intellectual impairment in 2 cases.

CONCLUSIONJeavons syndrome is one of the idiopathic generalized epilepsies characterized by EM with or without absence. The age of seizure onset might be difficult to be exactly established, as EM was often misinterpreted and overlooked initially. Clinical history combined with VEEG monitoring with eye closure and intermittent photic stimulation tests could diagnose this disease. Valproate and other new antiepileptic drugs were effective for this disease. Jeavons syndrome is a lifelong disorder. Seizures sometimes could be well controlled. When seizures were resistant to treatment, cognitive and intellectual impairment might occur.

Adolescent ; Age of Onset ; Anticonvulsants ; administration & dosage ; therapeutic use ; Child ; Child, Preschool ; Electroencephalography ; Electromyography ; Epilepsies, Myoclonic ; diagnosis ; drug therapy ; physiopathology ; Epilepsy, Tonic-Clonic ; diagnosis ; drug therapy ; physiopathology ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Male ; Myoclonus ; diagnosis ; drug therapy ; physiopathology ; Photic Stimulation ; methods ; Retrospective Studies ; Seizures ; physiopathology ; Syndrome ; Valproic Acid ; administration & dosage ; therapeutic use

OBJECTIVETo investigate the clinical and electroencephalographic (EEG) characteristics, therapeutic response and long-term prognosis of early myoclonic encephalopathy.

METHODThe clinical and EEG data of three patients with early myoclonic encephalopathy were analyzed. These patients were admitted to our hospital between September 2008 and January 2012. The patients were followed up for therapeutic response and long-term prognosis.

RESULTThe age of onset was from 2 to 23 days after birth. All patients had the onset of erratic or fragmentary myoclonus. Two patients had frequent simple focal seizures. One patient had tonic spasms when he was 3 months old. The EEG characteristic of all patients was repetitive suppression-burst pattern. The suppression-burst pattern was characterized by paroxysmal short bursts and long periods of suppression. The EEG paroxysms of one patient was asynchronous over both hemispheres. There is no effective therapy for early myoclonic encephalopathy. A patient died before two years of age. Two patients had severe partial epilepsy and showed very severe retardation.

CONCLUSIONEarly myoclonic encephalopathy usually starts in the first month of life. Erratic myoclonus appears first. Myoclonus is the principal features of early myoclonic encephalopathy. Frequent focal seizures occur shortly after erratic myoclonus. Tonic epileptic spasms may develop within 3 - 5 months. The suppression-burst pattern is EEG characteristic. There is no effective therapy for early myoclonic encephalopathy and the prognosis is poor.

Anticonvulsants ; therapeutic use ; Electroencephalography ; Epilepsies, Myoclonic ; diagnosis ; drug therapy ; physiopathology ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Prognosis ; Psychomotor Disorders ; diagnosis ; etiology ; physiopathology ; Spasms, Infantile ; diagnosis ; drug therapy ; physiopathology ; Survival Rate ; Valproic Acid ; therapeutic use

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 the mutations of the sodium channel alpha 1 subunit gene SCN1A in severe myoclonic epilepsy of infancy (SMEI) patients and analyze its inheritance.

METHODSTwenty-three patients consistent with the diagnosis of SMEI were selected for SCN1A mutation analysis. Genomic DNA was extracted from peripheral blood lymphocytes of these patients and their parents. All the twenty-six exons of the SCN1A gene were amplified by PCR and sequenced.

RESULTSIn the 23 SMEI patients, 17 mutations were identified in 17 unrelated SMEI patients. The SCN1A mutation rate was 73.9% (17/23). The mutations included 8 missense mutations (F90S, I91T, A239T, W952G, T1210K, V1335M, V1390M and G1433E), 3 nonsense mutations (R612X, W768X and W1408X), 3 deletion mutations (A395fsX400, L556fsX557 and V1778fsX1800), 1 insertion mutation (Y1241fsX1270), 1 splice-site mutation (IVS10+3 A to G) and 1 synonymous mutation (K1492K), of which 47.1% (8/17) were truncation mutations. Thirteen mutations (F90S, I91T, T1210K, V1335M, G1433E, R612X, W768X, A395fsX400, L556fsX557, V1778fsX1800, Y1241fsX1270, IVS10+3A to G and K1492K) have not been reported previously. Except for F90S, L556fsX557 and V1778fsX1800, the other 14 mutations were de novo.

CONCLUSIONSCN1A is a major pathogenic gene for SMEI. About a half of the SCN1A mutations in SMEI cause truncation. There were no hotspots of SCN1A mutations in SMEI patients, and most mutations were de novo.

Adolescent ; Age of Onset ; Amino Acid Sequence ; Child ; Child, Preschool ; Chromosome Mapping ; Codon, Nonsense ; DNA Mutational Analysis ; Epilepsies, Myoclonic ; diagnosis ; genetics ; Exons ; genetics ; Female ; Genotype ; Humans ; Infant ; Male ; Molecular Sequence Data ; Mutation, Missense ; Nerve Tissue Proteins ; genetics ; Pedigree ; Phenotype ; Sequence Alignment ; Sequence Deletion ; Sodium Channels ; genetics