Juvenile myoclonic epilepsy

Juvenile myoclonic epilepsy (JME) A primary generalized epilepsy syndrome that usually starts in the early to middle teenage years and has a strong familial component. Patients have myoclonic jerks and tonic-clonic seizures and may also have absence seizures. 

BC, a 22-year-old woman, was diagnosed 2 years ago with juvenile myoclonic epilepsy. She has been treated with valproate 1500 mg/day. Since starting valproate she has gained 45 pounds (20.5 kg), continues to have occasional myoclonic jerks, had a generalized tonic-clonic seizure 3 months ago, and is sexually active. Additionally, she complains of easily falling asleep during the day. Due to adverse effects, poor seizure control, and the risk of birth defects with valproate, the decision is made to switch to a different antiepileptic drug. 

In normal dosages juvenile myoclonic epilepsy may be induced with lamotrigine. 

Specific myoclonic syndromes are usually treated with valproate an intravenous formulation can be used acutely if needed. It is nonsedating and can be dramatically effective. Other patients respond to clonazepam, nitrazepam, or other benzodiazepines, although high doses may be necessary, with accompanying drowsiness. Zonisamide and levetiracetam may be useful. Another specific myoclonic syndrome, juvenile myoclonic epilepsy, can be aggravated by phenytoin or carbamazepine valproate is the drug of choice followed by lamotrigine and topiramate. 

Table 8. CACNB4 ( i, ) Functional results for mutations associated with JME= juvenile myoclonic epilepsy, GE = generalized epilepsy and EA = episodic ataxia...

Generalized tonic-clonic seizures (grand mal) Juvenile myoclonic epilepsy Reflex epilepsy... 

After a period of at least 2-3 years free from seizures, withdrawal of antiepilepsy drug therapy can be considered. The prognosis of a seizure disorder is determined by a number of factors. Some are known to remit spontaneously e.g. benign rolandic epilepsy and petit mal, whereas others never remit e.g. juvenile myoclonic epilepsy. In many types of epilepsy the outlook is less certain and only general indicators are available. The following factors can be important ... 

Genton P, GeUsse P, Thomas P, Dravet C. Do carbama-zepine and phenytoin aggravate juvenile myoclonic epilepsy Neurology 2000 55(8) 1106-9. 

The traditional treatment of tonic-clonic seizures is phenytoin or phenobarbital however, the use of carbamazepine and valproic acid is increasing because these AEDs have a lower incidence of side effects and equal efficacy. Valproic acid generally is considered the drug of first choice for atonic seizures and for juvenile myoclonic epilepsy. Lamotrigine and perhaps topiramate and zonisamide may be alternative agents for these seizure types. 

Myoclonic seizures—Brief shock-hke muscular contractions of the face, trunk, and extremities. They usually begin in adolescence and are referred to as juvenile myoclonic epilepsy (JME). 

Renal calculi have also been reported associated with acetazolamide use [78-82]. A review of patients receiving chronic acetazolamide therapy for glaucoma [83], juvenile myoclonic epilepsy [84], and neuromuscular disease [85] shows an incidence of nephrolithi-... 

Valproic acid is the drug of choice for myoclonic seizures in juvenile myoclonic epilepsy, in which myoclonic seizures often coexist with tonic-clonic and absence seizures. No trials have examined any of the newly introduced drugs for patients with juvenile myoclonic epilepsy or other idiopathic generalized epilepsy syndromes. 

Epilepsy. Ristic et al have investigated metabolite levels with MRS in the hippocampus of patients with juvenile myoclonic epilepsy. 

Within the BET family, BRD2 is genetically associated with juvenile myoclonic epilepsy. Although complete knockout in mice results in embryonic lethality (with neural tube defects as a major pathology), targeted reduction in expression by promoter disruption in adult mice causes an unusual obese phenotype without type 2 diabetes. ... 

Nervous system Certain AEDs are known to cause a paradoxical exacerbation of seizures. Oxcarbazepine not only worsened myoclonic seizures but led to myoclonic status epilepticus in a 44-year-old man with juvenile myoclonic epilepsy [110 ]. 

Fanella M, Egeo G, Fattouch J, Casdato S, Lapenta L, Morano A, et al. Oxcarbazepine-induced myoclonic status epilepticus in juvenile myoclonic epilepsy. Epileptic Disord June 2013 15(2) 181-7. 

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