Pitfalls in diagnosis of epilepsy of Janz and its implications

Abstract

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.