Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

For pure childhood absence epilepsy (CAE), ethosuximide (ESM) remains the drug of first choice. Although valproic acid (VPA) is of equal efficacy, it is more toxic, and is reserved for those patients with accompanying convulsions. Lamotrigine (LTG) is effective as both add-on and monotherapy for CAE. If any of these three drugs fails, one of the other two can be used as monotherapy. Rarely, when ESM, VPA, or LTG does not effectively control CAE, phenytoin (PHT), primidone (PRM), and phenobarbital (PB) may be partially effective, although carbamazepine (CBZ) may worsen absence seizures. Experience is limited with the newer AEDs. Tiagabine (TGB) may induce absence status epilepticus in PGE. Oxcarbazepine (OXC) and vigabatrin (VGB) may worsen absence seizures. Felbamate (FBM) is probably effective, but is potentially fatal. Lifelong therapy is not anticipated. For juvenile absence epilepsy (JAE), VPA is the drug of first choice. LTG is also of proven efficacy. The risks of VPA-induced teratogenicity (possibly lessened by the concurrent use of folic acid) and weight gain are potentially unacceptable in young women of childbearing age. Not enough data exists on the safety of LTG in pregnancy. A combination of VPA and LTG can be used if either drug alone is unsuccessful. For juvenile myoclonic epilepsy (JME), VPA is the traditional drug of first choice in most patients. As in JAE, side effects may make VPA an unacceptable choice in many patients, especially young women. In clinical practice, TPM is being increasingly used as monotherapy for JME. Many patients appreciate the accompanying weight loss seen with TPM, but it has potentially troubling side effects, has not been well studied as monotherapy for JME, and its safety in pregnancy has yet to be confirmed. PHT and CBZ may worsen myoclonus when used alone, but they may have a role as add-on treatment to VPA, LTG, or TPM, especially when generalized tonic-clonic seizures (GTCSs) are not controlled. PB and PRM may also be useful as add-on treatment, but often have unacceptable side effects. Clonazepam may be useful as adjunctive treatment for resistant myoclonic jerks. OXC and VGB both worsen myoclonic seizures. GBP is not useful in JME and can make seizures worse. The efficacy of FBM and TGB in JME is largely unknown. Lifelong AED therapy is necessary. In epilepsy with generalized tonic-clonic seizure (GTCS) on awakening (EGA), VPA is the drug of choice, especially if other seizure types (absence and myoclonic) are present. If only GTCSs are present, then PB, PHT, and CBZ may be as effective as VPA; however, the use of PHT and CBZ may "unearth" other seizure types (absence and myoclonic) in those patients with EGA, although PB is poorly tolerated. As for JME, LTG, and TPM may both be effective monotherapy for EGA, although the use of other AEDs in EGA has not been well studied. Lifelong AED treatment is necessary.
 ...
PMID:Primary Generalized Epilepsies. 1109 77

Classification of epilepsy has been refined to a degree that begins to allow identification of syndromes that are benign, if not in clinical pattern, at least with regard to ultimate outcome. Infants, children, adolescents, and even adults, on occasion, develop seizures that challenge judgment regarding selection of drugs and duration of treatment. Childhood absence epilepsy tends to follow a benign course, with abatement of need for treatment in many patients. However, in approximately 40% of patients with onset of this syndrome, there is evolution to juvenile myoclonic epilepsy (JME), a form of seizure disorder that requires life-long treatment. One syndrome that is clearly almost always benign is benign epilepsy with centrotemporal spikes (BECTS). This clinical problem is defined by complaints, observations of behavior, and by a specific electroencephalographic pattern. Some patients are not treated; many undergo brief administration of medication. Infantile convulsive seizures that may be partial or with myoclonus tend to be familial and require treatment for 1 or 2 years. Time is required to make a decision about treatment because observation over time is required to be sure patients are developing normally, a hallmark of these syndromes. Familial groupings of partial seizures in adolescents appear to follow a benign course, as do those in many elderly patients with seizures after cerebral infarction. Treatment decisions require clinical judgment and observations over time. Drug selection is governed more by experience of individual clinicians, because benign syndromes occur infrequently and prospective studies are seldom performed.
 ...
PMID:Treatment of benign epilepsy syndromes throughout life. 1190 28

Fourteen patients with juvenile myoclonic epilepsy (JME) were treated with a single low dose of a sustained-release preparation of sodium valproate (VPA, 500 mg daily). The mean age of the onset of the low dose treatment was 19.2 years (range 14-26). Before this treatment, six patients had been treated with high dose VPA for a period of more than 2 years, three patients for 1 to 2 years, three patients less than 1 year and two patients initiated the treatment from the beginning with a low dose. The mean duration of low dose treatment is 35.6 months (range 25-59 months). (All patients are still under medication). Generalized tonic-clonic and absence seizures were controlled in all patients. Myoclonic jerks relapsed only in one patient, a young mother who was looking after her newly born baby and was deprived of sleep. No adverse reactions have been reported. We suggest that JME patients can effectively be treated with single low VPA dose (500 mg daily), while at the same time seizure precipitating factors, such as sleep deprivation and alcohol ingestion, should be avoided.
 ...
PMID:Low dose sodium valproate in the treatment of juvenile myoclonic epilepsy. 1196 42

In order to outline the clinical and EEG characteristics of recurrent absence status epilepticus (ASE), eight cases with more than two attacks of ASE were studied. Their current ages were between 13 and 84 years, and five of the patients were women. There was a history of epilepsy in five of the patients before the first ASE episode. A varying degree of confusion was the main clinical symptom with associated mild motor signs like perioral, eyelid and generalised myoclonus, seen in one, two and four patients respectively. Two of the patients had juvenile myoclonic epilepsy. One patient had an atypical form of childhood absence epilepsy characterised by recurrent ASE attacks on awakening. There were two patients with phantom absences and late onset generalised convulsions, one patient with perioral myoclonia and absences, and finally two patients with eyelid myoclonia with absences, which are proposed syndromes. On the EEGs that revealed the diagnosis of ASE, there was a marked variability of the generalised multispike and wave discharges. The EEG findings appeared to be syndrome-related with some exceptions. IV Clonazepam lead to a dramatic improvement. Our study shows that the majority of recurrent ASE cases do not fit into the International syndrome classification.
 ...
PMID:Recurrent absence status epilepticus: clinical and EEG characteristics. 1207 3

A 15-year-old girl with clinical and serologic evidence of active Epstein-Barr virus infection presented with a new onset of myoclonic jerks, confirmed on electroencephalogram (EEG) by generalized polyspike-and-wave epileptiform activity. Family history for juvenile myoclonic epilepsy was negative, and brain magnetic resonance imaging was normal. The myoclonic jerks resolved spontaneously after 5 days, with gradual normalization of the EEG during the ensuing month and since then no resumption over the last 2 years. Previous reports have already linked Epstein-Barr virus infection to opsoclonus-myoclonus syndrome and hypsarrhythmia, but to the best of our knowledge, this is the first presentation of epileptic myoclonic jerks associated with acute Epstein-Barr virus infection. We suggest that acute myoclonic seizures with a transiently abnormal EEG and benign course can be associated with acute Epstein-Barr virus infection.
 ...
PMID:Myoclonic seizures as a main manifestation of Epstein-Barr virus infection. 1217 66

Epilepsy affects more than 0.5% of the world's population and has a large genetic component. The most common human genetic epilepsies display a complex pattern of inheritance and the susceptibility genes are largely unknown. However, major advances have recently been made in our understanding of the genetic basis of monogenic inherited epilepsies. Progress has been particularly evident in familial idiopathic epilepsies and in many inherited symptomatic epilepsies, with the discovery that mutations in ion channel subunits are implicated, and direct molecular diagnosis of some phenotypes of epilepsy is now possible. This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy, and some types of myoclonus epilepsies. Mutations in the neuronal nicotinic acetylcholine receptor alpha4 and beta2 subunit genes have been detected in families with autosomal dominant nocturnal frontal lobe epilepsy, and those of two K(+) channel genes were identified to be responsible for underlying genetic abnormalities of benign familial neonatal convulsions. The voltage-gated Na(+) -channel (alpha1,2 and beta1 subunit), and GABA receptor (gamma2 subunit) may be involved in the pathogenesis of generalized epilepsy with febrile seizure plus and severe myoclonic epilepsy in infancy. Mutations of Ca(2+)-channel can cause some forms of juvenile myoclonic epilepsy and idiopathic generalized epilepsy. Based upon these findings, pathogenesis of epilepsy as a channelopathy and perspectives of molecular study of epilepsy are discussed.
 ...
PMID:Genetics of epilepsy: current status and perspectives. 1220 89

Idiopathic generalized epilepsy (IGE) is often not recognized with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis of IGE in 41 adults attending our epilepsy clinic with diagnosis of partial epilepsy who had semiology or EEG findings suggesting a possible differential diagnosis. After careful re-evaluation, the diagnosis of IGE was established in 25 patients: 22 (88%) with JME, one with juvenile absence, one with perioral myoclonia with absences, one with eyelid myoclonia with typical absences. Myoclonic jerks, the hallmark of the JME and other IGE, were not usually reported by patients or misdiagnosed as focal motor seizures. Brief and infrequent absence seizures and focal EEG abnormalities were other factors contributing to not recognizing JME. All 25 patients did not achieve seizure control before re-evaluation of diagnosis. After appropriate diagnosis of IGE and change of AED to valproate or valproic acid, 19 (76%) became seizure free and six (24%) had a significant improvement on seizure control. Association with lamotrigine provided further improvement in three of these patients. An appropriate questioning to identify myoclonic and absence seizures and a proper interpretation in the context of whole clinical constellation are essential for a correct seizure classification and diagnosis of IGE in adults.
 ...
PMID:[Idiopathic generalized epilepsies misdiagnosed as partial epilepsies]. 1236 50

84 patients of juvenile myoclonic epilepsy (JME) of Janz were studied. Diagnosis was confirmed using clinical and electro-encephalographic (EEG) criterias. 58 (78%) patients of JME were referred as 'refractory or uncontrolled seizures'. Ignoring myoclonic episodes and non-use of activation procedures in EEG were important reasons for diagnostic delay. Sodium valproate (VPA) or clonazepam are the drugs of choice while phenobarbitone (PB), carbamazepine (CZ), and phenytoin (PHT) are ineffective. Clinical spectrum of JME is slightly different in India. Family history of epilepsy or JME is not forthcoming and there is gross delay in the diagnosis. Other differences include age of presentation and mild cognitive impairment. All juvenile patients of generalized epilepsy, not responding to more commonly used CZ, PB and PHT should be strongly suspected for JME by carefully searching for myoclonus.
 ...
PMID:Pitfalls in diagnosis of epilepsy of Janz and its implications. 1257 97

The term "myoclonus" has been used to describe heterogeneous phenomena involving sudden movements, but there is no generally accepted, precise definition of myoclonus. Myoclonus can often be classified based on electroencephalographic (EEG) and/or electromyographic (EMG) data. Some myoclonic epilepsy syndromes, including juvenile myoclonic epilepsy, may frequently be misdiagnosed because of failure to obtain a complete patient history and/or failure to appreciate characteristic EEG changes. A good understanding of the features associated with myoclonic disorders (particularly the myoclonic epilepsies) and of features associated with other neurologic disorders that are often confused with myoclonic disorders is an invaluable aid in obtaining an accurate diagnosis and will ultimately help in determining the best course of treatment for patients.
 ...
PMID:Clinical presentations and phenomenology of myoclonus. 1464 66

We report on two siblings who presented with juvenile myoclonic epilepsy, and in whom myoclonic jerks of the right arm and hand were also triggered by writing tasks. Both patients underwent intensive video-electroencephalography monitoring, with simultaneous neuropsychological tests. In both patients, reflex epileptic myoclonus was more easily triggered by writing that required a higher degree of concentration. Conversely, other cognitive tasks, such as reading, typing, thinking, or calculation never elicited any seizures or myoclonus. Valproate was effective in controlling both spontaneous and reflex epileptic seizures. The results of this study further support the notion that 'praxis-induced' reflex epilepsy precipitated by specific stimuli occurs in the context of idiopathic generalized epilepsy. Our results also illustrate that writing tasks are more effective in eliciting seizures when they require higher levels of concentration and mental elaboration.
 ...
PMID:Reflex writing seizures in two siblings with juvenile myoclonic epilepsy. 1476 64


<< Previous 1 2 3 4 5 6 Next >>