eMedicine Specialties > Neurology > Seizures and Epilepsy

Epilepsy, Juvenile Myoclonic

Author: Jose E Cavazos, MD, PhD, FAAN, Associate Professor with Tenure, Departments of Neurology, Pharmacology, and Physiology, University of Texas Health Science Center at San Antonio; Co-Director, South Texas Comprehensive Epilepsy Center; Director of the Epilepsy Center, Audie L Murphy Veterans Affairs Medical Center
Coauthor(s): Mark Spitz, MD, Professor, Department of Neurology, University of Colorado Health Sciences Center
Contributor Information and Disclosures

Updated: Nov 18, 2009

Introduction

Background

Juvenile myoclonic epilepsy (JME) is an idiopathic generalized epileptic syndrome characterized by myoclonic jerks, generalized tonic-clonic seizures (GTCSs), and sometimes absence seizures. JME is relatively common and usually responds well to treatment with appropriate anticonvulsants. However, JME is frequently misdiagnosed until the patient is specifically asked about the leading symptom, jerky movements occurring primarily within the first couple of hours after awakening. Other keys to the diagnosis include normal intelligence, onset around adolescence, GTC seizures occurring shortly after awakening, family history of the condition, and seizures after precipitating factors such as sleep deprivation or psychological stress. Although patients usually require lifelong treatment with anticonvulsants, their overall prognosis is generally good.

Brief history of JME

In 1867, Herpin was the first to describe a probable case of JME.1 He described a bright boy aged 13 years who developed upper-body jerks that progressed to "full seizures" 3 months later. Later, Rabot2 , Lundborg3 , and other physicians reported patients who had similar seizures, and terms such as impulsions were used to describe the myoclonic jerks. Janz and Mathes published a monograph about patients with "propulsive petit mal epilepsy" in 1955.4 In 1957, Janz and Christian published observations of a group of patients with a syndrome now known as JME.5 Janz named this syndrome "impulsive petit mal epilepsy." Lund introduced the term juvenile myoclonic epilepsy in 19756 , and the International League Against Epilepsy has adopted this term.

Definition

Under the proposal for revised classification of epilepsies and epileptic syndromes, in 1989 the Commission on Classification and Terminology of the International League Against Epilepsy defined JME (impulsive petit mal) as follows: "Impulsive petit mal appears around puberty and is characterized by seizures with bilateral, single or repetitive, arrhythmic, irregular myoclonic jerks, predominantly in the arms. Jerks may cause some patients to fall suddenly. No disturbance of consciousness is noticeable. Often, there are GTCS and, less often infrequent absences. The seizures usually occur shortly after awakening and are often precipitated by sleep deprivation. Interictal and ictal EEG have rapid, generalized, often irregular spike-waves (SW) and polyspike-waves (PSW); there is no close phase correlation between EEG spikes and jerks. Frequently the patients are photosensitive. The disorder may be inherited and sex distribution is equal. Response to appropriate drugs is good." 

In one case of identical twins in the first author's experience (JEC), one twin exclusively had absences and had been treated only with ethosuximide since childhood. She never had myoclonic or generalized tonic-clonic seizures, and her seizures were well controlled with a drug that was considered ineffective in the treatment of these other types of seizures. The other twin first presented with generalized tonic-clonic seizures at the age of 18 years; in retrospect, she had noticed morning myoclonic jerks for 2 years before her presentation. She had never had absences. Their EEGs showed typical polyspike and slow-wave discharges interictally in both cases with no obvious difference between the twins.

Pathophysiology

Etiology

JME is an idiopathic generalized epilepsy syndrome. It is not associated with conditions such as head trauma, brain tumor, or encephalitis. Neuropathologic studies involving specialized staining techniques in patients with primary generalized seizures (including a few with a diagnosis of JME) have revealed microscopic brain alterations. Changes include an increase in the number of partially dystopic neurons in the stratum moleculare, white matter, hippocampus, and cerebellar cortex; an indistinct boundary between the cortex and the subcortical white matter and between lamina 1 and 2; and a columnar arrangement of cortical neurons. These findings are termed microdysgenesia and have been interpreted as a manifestation of minimal developmental disturbances. However, results of routine pathologic analysis of brain specimens from patients with JME are typically normal.

The exact cause of this disorder remains unknown. However, considerable progress has been made in the understanding of some families with specific mutations that yield the clinical phenotype of JME. Some of the known mutations result in abnormalities in ion channel proteins such as the beta-4 subunit of calcium channels and the chloride channel 2 protein. A protein called myoclonin has been identified. Its function remains uncertain but has been implicated in apoptosis, cell division, and cell migration. These functions might explain the subtle abnormalities in cortical migration reported in the neuroimaging of some patients with JME.

A 2008 published study demonstrated increased GABA-A receptor subunit degradation in a mutation of the alpha1-subunit (A322D) of GABA-A receptor identified in a large Canadian family with juvenile myoclonic epilepsy.7 This results in a decreased lifespan of the functional GABA-A receptor on the plasma membrane. A review article by MacDonald and Kang describes additional mechanisms that might result in hyperexcitability.8

In another study, there was a reduction in the regional binding potential to the dopamine transporter (DAT) in the substantia nigra and midbrain (but not in caudate or putamen) in a PET study of patients with JME as compared with healthy controls.9

Genetics

JME is an inherited disorder, but the exact mode of inheritance is not clear. About a third of patients with JME have a positive family history of epilepsy. About 17-49% of patients with JME have relatives who have epileptic seizures, including parents (about 4%) and children (about 7%). The risk of expressing clinical JME might be slightly higher in female individuals than in male individuals and in relatives of people with JME. However, some studies have shown similar sex-related risks.

Progress in identifying genetic mutations in patients and families with JME has been considerable. Dr. Delgado-Escueta has written a comprehensive review about the genetics of JME.10 The syndrome of JME likely consists of many genetic diseases that result in a similar electroclinical syndrome. See Causes for a further discussion on specific mutations.

Although investigators in most studies have presumed that JME is an autosomal dominant condition (ie, 50% risk of inheritance), it has incomplete penetrance, which means that some individuals who inherit the JME gene or genes do not express clinical JME. However, their children may inherit the JME genes and express clinically obvious disease. To an untrained observer, the disease seems to skip generations. For relatives of a patient with JME, the risk of having clinically obvious JME is small: 3.4% in parents, 7% in siblings, and 6.6% in children.

Despite similar genetic burden, the phenotype of JME might vary among relatives just as exemplified above in the case of identical twins with the proband having JME (myoclonus and GTC seizures) and the identical twin only having childhood absence epilepsy. A French-Canadian study of probands with JME demonstrated only an absence syndrome in 27% of relatives with seizures.11

Frequency

United States

The risk of JME in the general population is estimated to be 1 case per 1000-2000 people. JME is a relatively common idiopathic generalized epilepsy. It represents about 5-10% of all epilepsies; however, the exact figures may be higher, as the condition is often misdiagnosed.

International

The incidence and prevalence of JME appear to be the same in all the populations that have been studied.

Mortality/Morbidity

Sudden unexpected death in epilepsy (SUDEP) and accidental morbidity and mortality have been observed as in other epileptic syndromes with generalized tonic clonic seizures. Seizure precautions to minimize these risks are discussed later in this chapter.

Race

No systematic racial differences have been observed. However, it is likely that some specific genetic mutations among the different types described in families with JME might be more prevalent among different racial groups. For example, the myoclonin (EFHC1) mutation has been found in 9-20% of Mexican-American families with JME, but only in 3% of Japanese families with this disorder.10

Sex

Findings from some studies suggest that JME is slightly more prevalent among females than males. The reason is unknown. However, data from other studies indicate similar prevalences in both sexes.

Age

  • JME typically begins in adolescence. Although the age of onset varies from 6-36 years, symptoms typically begin in adolescents aged 12-18 years.
  • Myoclonic jerks, GTCSs, and absence seizures all have an age-related onset in JME.
  • If absence seizures are a feature, they usually begin between the ages of 5 years and 16 years. Myoclonic jerks may follow 1-9 years later, usually around the age of 15 years. GTCSs typically appear a few years later than myoclonic jerks.
  • Why the onset of this genetic disorder is delayed until adolescence is unclear.

Clinical

History

JME is diagnosed based on clinical findings. Video EEG monitoring of typical seizures is the criterion standard, but in the great majority of patients, a working diagnosis of probable JME is made on clinical history. Although observers' descriptions of seizures are helpful, caution must be used regarding their validity. The most important element in the diagnosis of JME is the patient's history. Any patient who presents with generalized tonic clonic seizures (GTCSs) without an aura should be questioned about myoclonic jerks, the time of day when the seizures occurred, and any precipitating factors.

  • Symptoms usually begin in adolescence.
  • Leading symptom is jerky movements that occur in the morning but might occur throughout the day.
  • Patients do not lose consciousness during myoclonic jerks.
  • Typically, seizures occur shortly after awakening.
  • Intelligence is normal.
  • Precipitating factors include sleep deprivation and psychological stress.
  • About 17-49% of patients have a family history of epilepsy.
  • Myoclonic jerks or seizures
    • Myoclonic jerks or seizures without impairment of consciousness are the cardinal symptoms of JME. Although an occasional, strong myoclonic jerk may make patients momentarily seem to be "in a fog," a key feature is that consciousness is preserved during these jerks.
    • The jerks are usually brief, bilateral, arrhythmic contractions that mainly involve the shoulders and arms. However, some patients report jerking in the lower limbs, trunk, or head. Some jerks occur unilaterally. In a video-EEG study, Hirano et al characterized myoclonic jerks in patients with JME as being more likely to occur in clusters, with distal predominance, and involving extension muscles.12
    • The frequency and intensity of these jerks may vary. For instance, they may be perceived only internally, as an electric shock–like sensation. If the jerks are violent, patients may throw objects they are holding or even fall to the floor.
    • Myoclonic jerks can occur in rapid succession and even progress to myoclonic status epilepticus. However, more often a rapid succession of myoclonic jerks evolves into a primary GTCS.
    • Myoclonic jerks occur as the only seizure type in approximately 17% of patients with JME; the rest have GTCSs, or absence seizures, or both in addition to myoclonic jerks.
    • Myoclonic seizures tend to subside by the fourth decade13 , but other seizures types might continue.
  • Generalized tonic-clonic seizures
    • GTCSs occur in approximately 80% of patients with JME.
    • GTCSs of JME are typically symmetric, with a prolonged tonic phase that may lead to cyanosis and tongue biting and no sensory aura.
    • GTCSs are sometimes preceded by a series of myoclonic jerks of increasing severity that evolve into an initial clonic phase of a GTCS. The GTCSs often cause a patient with JME to seek medical attention; in this setting, patients should be questioned specifically about myoclonic jerks because most patients do not mention them.
  • Absence seizures
    • In JME, absence seizures occur somewhat less often than do GTCSs. Janz reported that 28% of his patients with JME also had absence seizures.
    • When these seizures are a feature of JME, they are often the first clinical manifestation of the syndrome, with myoclonic jerks typically following 1-9 years later. In JME, absence seizures are typically short, lasting a few seconds, and they usually are not accompanied by motor signs.
    • Severity of seizures is somewhat age dependent. When they appear in children younger than 10 years, absence seizures of JME are reported less often than those of childhood absence epilepsy. Some recollection of the ictal events is common, particularly in patients that have persistence of these seizures during adulthood. Automatism is rare. When the seizures begin in children aged 10 years or older, absence seizures of JME may be even less severe than they otherwise would be, with merely a brief interruption in the patient's ability to concentrate. In a video-EEG monitoring study of patients with absence seizures, Sadleir et al found that patients with JME tend to have shorter seizures than patients with other epileptic syndromes with absences.14
    • Sometimes, the first manifestations of JME are childhood absence seizures. A clue to this diagnosis is the development of GTCSs or myoclonic seizures within a couple of years after starting treatment with ethosuximide.
    • Approximately 3-8% of children who present with absence seizures ultimately receive a diagnosis of JME.
  • Seizure presentations
    • Patients may have myoclonic jerks plus a combination of other seizure types.
    • In about 60% of patients, JME begins with myoclonic jerks, which are followed by the onset of relatively uncommon GTCSs a few years later.
    • The finding of myoclonic jerks plus absence seizures and GTCSs is the next most common combination, occurring in approximately 30% of patients with JME.
    • The combination of myoclonic jerks and absence seizures without GTCSs is rare, occurring in only 2% of patients.
  • Precipitating factors of seizures
    • Seizures of JME often are precipitated by lack of sleep, psychological stress, noncompliance of medication, and drinking alcohol. These factors can be a particular problem in adolescents; staying up late at night to study or party can easily lead to myoclonic seizures or GTCS the next morning. Patients with JME tend to be sensitive to photic stimulation. Approximately 30% of patients with JME are photosensitive; females typically are more sensitive than males.
    • The time of day is also important because JME has a characteristic circadian pattern of clinical activity. Myoclonic jerks, GTCSs, and absence seizures all tend to occur in the early morning after the patient awakens. To a lesser extent, these symptoms also occur in the evening when the patient is relaxing. When myoclonic jerks occur in the mornings, patients may have difficulty in eating breakfast or brushing their teeth. In some studies, nearly 90% of patients with JME had myoclonic jerks on awakening; the rest had either random jerks throughout the day or jerks at night.
    • [#TMS]In a study using transcranial magnetic stimulation (TMS) to examine the diurnal variability of cortical excitability, Badawy et al demonstrated that short and long intracortical inhibition was considerably more impaired in the mornings as compared with the afternoons in patients with JME.15 This might suggest a biological basis for the clinical observation of increased seizure frequency within the first hour upon awakening in patients with JME.
    • Precipitating factors can be summarized as follows:
      • Sleep deprivation
      • Psychological stress
      • Alcohol use
      • Noncompliance of medication
      • Photic stimulation
      • Menses
      • Time of day - Usually mornings
    • Comorbidities
      • Psychiatric comorbidities have been described often in patients with JME. In one study, 49% of patients with JME had a psychiatric comorbidity.16 Anxiety and mood disorders were reported in 23% and 19% of patients with JME, respectively.
      • Neuropsychological testing of patients with JME have shown selected frontal lobe dysfunction in tests such as the Wisconsin Card Sorting test and the Word Fluency test.17 This is despite having normal IQ testing through conventional Wechsler testing. Impairment in executive function has also been reported.18

Physical

  • Findings on physical examination are usually normal. No abnormalities are usually identified in patients with JME.
  • Intelligence is normal. This observation is in contrast to findings with diseases such as progressive myoclonic epilepsies, in which progressive mental deterioration is the rule.

Causes

The exact cause of JME remains unknown. Several families have specific mutations in various genes and a complex mode of inheritance.

Mutations in genes encoding ion channels have been associated with JME, including those encoding for the beta-4 calcium channel subunit (CACNB4), the gamma-aminobutyric acid (GABA) receptor subunit (GABRA1), and the chloride channel (CLCN2). Each of these channelopathies have been described in a single family and are rare causes of JME.19

One approach has been the use of linkage studies in several families with JME at the same time. This approach led to the identification of 3 additional loci: EJM1 at chromosomal region 6p12-p11, EJM2 at 15q14, and EJM3 at 6p21.

Suzuki et al described a gene (EFHC1) in the EJM1 site at 6p12–p11, which had 5 missense mutations that cosegregated with epilepsy or EEG PSW in affected members of 6 unrelated families with JME.20 Small, R-type calcium currents were observed with the mutations of EFHC1. Apoptosis, a form of programmed cell death, was also reduced with mutations of EFHC1.

A more recent study examined the expression profile and distribution of EFHC1 messenger RNA in rats and mice during development.21 Expression is intense in ependymal cells. In both species, EFHC1 expression appeared to be greater early in brain development with a progressive decrease in expression from birth to 14 days of life suggesting that some of the abnormalities described in cortical development might be due to inappropriate expression of EFHC1. Mice deficient in EFHC1 develop spontaneous myoclonic seizures during adulthood and they have an increased susceptibility to pentylenetetrazol-induced convulsions.22

A study by the Genomic group of Delgado-Escueta demonstrated that 4 of the polymorphisms of the coding region for EFHC1 do not contribute as susceptibility alleles in a population of sporadic JME patients.23 However, in consecutive JME patients seen in tertiary clinics in Mexico and Honduras, 9% of them had mutations in Myoclonin1/EFCH1.24

The causative gene at the EJM2 locus has not been identified. The EJM3 locus has been associated with 2 SNP variants of the promoter of the BRD2 (RING3) gene in patients with JME.25 BRD2 (RING3) is presumed to be a nuclear transcriptional regulator during development. However, a Dutch study failed to replicate the association between BRD2 (RING3) and JME.26 The mutations found in EJM1 and EJM3 pinpoint genetic factors that are important during development. Therefore, microdysgenetic abnormalities are likely to be found in patients with JME.

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Multimedia: Epilepsy, Juvenile Myoclonic
References
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Further Reading

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Keywords

JME, idiopathic generalized epileptic syndrome, myoclonic jerks, generalized tonic-clonic seizures, GTCSs, absence seizures

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Contributor Information and Disclosures

Author

Jose E Cavazos, MD, PhD, FAAN, Associate Professor with Tenure, Departments of Neurology, Pharmacology, and Physiology, University of Texas Health Science Center at San Antonio; Co-Director, South Texas Comprehensive Epilepsy Center; Director of the Epilepsy Center, Audie L Murphy Veterans Affairs Medical Center
Jose E Cavazos, MD, PhD, FAAN is a member of the following medical societies: American Academy of Neurology, American Clinical Neurophysiology Society, American Epilepsy Society, and Society for Neuroscience
Disclosure: Nothing to disclose.

Coauthor(s)

Mark Spitz, MD, Professor, Department of Neurology, University of Colorado Health Sciences Center
Mark Spitz, MD is a member of the following medical societies: American Academy of Neurology, American Clinical Neurophysiology Society, and American Epilepsy Society
Disclosure: pfizer Honoraria Speaking and teaching; ortho-mcneil Honoraria Review panel membership

Medical Editor

Ramon Diaz-Arrastia, MD, PhD, Assistant Professor, Department of Neurology, Comprehensive Epilepsy Center, University of Texas Southwestern
Ramon Diaz-Arrastia, MD, PhD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Neurology, New York Academy of Sciences, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: eMedicine Salary Employment

Managing Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

Chief Editor

Selim R Benbadis, MD, Professor, Director of Comprehensive Epilepsy Program, Departments of Neurology and Neurosurgery, University of South Florida School of Medicine, Tampa General Hospital
Selim R Benbadis, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Sleep Medicine, American Clinical Neurophysiology Society, American Epilepsy Society, and American Medical Association
Disclosure: Nothing to disclose.

 
 
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