JUVENILE MYOCLONIC EPILEPSY

Course overview

JUVENILE MYOCLONIC EPILEPSY (JME), OTHERWISE KNOWN AS JANZ SYNDROME AND IMPULSIVE PETIT MAL, IS AN IDIOPATHIC, HEREDITARY, AND GENERALIZED FORM OF EPILEPSY. IT WAS FIRST DESCRIBED BY HERPIN IN 1867, LATER ON BY JANZ AND CHRISTIAN IN 1957 AS 'IMPULSIVE PETIT MAL,' AND BY LUND IN 1975 AS JME. ITS CHARACTERISTICS ARE THE PRESENCE OF ABSENCE, MYOCLONIC, AND GENERALIZED TONIC-CLONIC SEIZURES. JME FALLS INTO THE CLASSIFICATION OF AN IDIOPATHIC AS WELL AS HEREDITARY (POSITIVE FAMILY HISTORY IN APPROXIMATELY 50% OF CASES) DISORDER. JME IS ONE OF THE MOST COMMON CHILDHOOD/JUVENILE EPILEPSY SYNDROMES ACCOUNTING FOR APPROXIMATELY 5%-10% OF ALL CASES OF EPILEPSY. JME IS SEEN IN BOTH SEXES EQUALLY, ALTHOUGH SOME STUDIES HAVE REPORTED A HIGHER INCIDENCE IN FEMALES. JME USUALLY MANIFESTS BETWEEN 12 AND 18 YEARS OF AGE. JME HAS BOTH IDIOPATHIC AND HEREDITARY COMPONENTS. THE GENETICS OF INHERITANCE IS NOT FULLY UNDERSTOOD, BUT A MULTIFACTORIAL MECHANISM IS SUSPECTED. CACNB4, EFHC1, GABRA1 ARE SOME OF THE GENES THAT CARRY KNOWN ASSOCIATIONS WITH JME. ALTHOUGH MAGNETIC RESONANCE IMAGING (MRI) OF THE BRAIN IS UNREMARKABLE IN CLASSIC JME CASES, THERE ARE REPORTS OF STRUCTURAL DEFECTS AS A POSSIBLE CAUSE OF JME. THIS ACTIVITY REVIEWS THE EVALUATION AND TREATMENT OF JUVENILE MYOCLONIC EPILEPSY AND THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING THIS CONDITION.