Myoclonic Epilepsy Beginning in Infancy or Early Childhood Workup

  • Author: Michael C Kruer, MD; Chief Editor: Amy Kao, MD   more...
 
Updated: Dec 8, 2011
 

Approach Considerations

EEG is the centerpiece of the diagnostic evaluation. If neuroimaging is performed, magnetic resonance imaging is preferred. Results are often normal, reflecting a genetic rather than structural etiology, although congenital brain abnormalities sometimes are observed. In some forms of childhood myoclonic epilepsy, progressive cortical atrophy may be seen.

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Electroencephalography

The ictal EEG correlate of myoclonic seizures consists of fast spike-wave discharges (>2.5 Hz), which, at times, are associated with slower 2- to 2.5-Hz discharges.[9] Interictal recordings may be normal or show slowing, depending on the etiology. Like other generalized epilepsies, abnormalities are frequently seen on routine EEG, even if myoclonus is not captured.

Brief (< 3 seconds) interictal bursts of irregular polyspike-waves may be seen either spontaneously or with photic stimulation. The occurrence of these discharges is increased during non–rapid eye movement (REM) sleep.

Also see EEG in Common Epilepsy Syndromes, EEG Video Monitoring, and Generalized Epilepsies on EEG.

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Additional Testing

Genetic tests

In select cases, testing for SCN1A or other genetic etiologies suggested by clinical history and/or examination may be appropriate.

Lumbar puncture

Lumbar puncture may be helpful in identifying mitochondrial disorders (elevated cerebrospinal fluid [CSF] lactate) or nonketotic hyperglycinemia (elevated CSF glycine). Elevated protein may indicate a neurodegenerative disease.

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Contributor Information and Disclosures
Author

Michael C Kruer, MD  Assistant Professor, Departments of Pediatrics and Neurosciences, Sanford School of Medicine, University of South Dakota; Physician in Pediatric Neurology and Neurogenetics, Sanford Children's Specialty Clinic, Sanford Children's Hospital

Michael C Kruer, MD is a member of the following medical societies: American Academy for Cerebral Palsy and Developmental Medicine, American Academy of Neurology, American Academy of Pediatrics, American Society of Human Genetics, Child Neurology Society, and Society for Neuroscience

Disclosure: EMD/Serono Grant/research funds Grant PI

Coauthor(s)

Raj D Sheth, MD  Professor, Mayo College of Medicine; Chief, Division of Pediatric Neurology, Nemours Children's Clinic

Raj D Sheth, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, American Neurological Association, and Child Neurology Society

Disclosure: Nothing to disclose.

Chief Editor

Amy Kao, MD  Attending Neurologist, Children's National Medical Center

Amy Kao, MD is a member of the following medical societies: American Academy of Neurology, American Academy of Pediatrics, American Epilepsy Society, and Child Neurology Society

Disclosure: Nothing to disclose.

Additional Contributors

James J Riviello Jr, MD George Peterkin Endowed Chair in Pediatrics, Professor of Pediatrics, Section of Neurology and Developmental Neuroscience, Professor of Neurology, Peter Kellaway Section of Neurophysiology, Baylor College of Medicine; Chief of Neurophysiology, Director of the Epilepsy and Neurophysiology Program, Texas Children's Hospital

James J Riviello Jr, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Up To Date Royalty Section Editor

Francisco Talavera, PharmD, PhD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Reference Salary Employment

References

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  8. Crompton DE, Berkovic SF. The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures. Lancet Neurol. Apr 2009;8(4):370-81. [Medline].

  9. Korff CM, Nordli DR Jr. Epilepsy syndromes in infancy. Pediatr Neurol. Apr 2006;34(4):253-63. [Medline].

  10. Wallace SJ. Myoclonus and epilepsy in childhood: a review of treatment with valproate, ethosuximide, lamotrigine and zonisamide. Epilepsy Res. Jan 1998;29(2):147-54. [Medline].

  11. Andrade DM, Hamani C, Minassian BA. Treatment options for epileptic myoclonus and epilepsy syndromes associated with myoclonus. Expert Opin Pharmacother. Jul 2009;10(10):1549-60. [Medline].

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