Source of Support: None, Conflict of Interest: None
This study was aimed at documenting different aspects of the expression of the disease based on clinical data from a large number of Indian probands with Juvenile myoclonic epilepsy. Information with regards to the type and frequency of seizures, precipitating factors, EEG data, response to anti-epileptic drugs and family history was collected from 329 JME probands seen in a large tertiary care super-speciality hospital using a uniform protocol. Detailed family pedigrees were constructed to include all the first- and second-degree relatives of probands and information on the seizures/epileptic syndromes in relatives was classified in a uniform way. The clinical expression and EEG features in 329 Indian probands were similar to the data reported on JME probands belonging to different population groups. Most patients (81%) were treated with only valproate. Family history of seizures among first or second-degree relatives was noted in 114 of 329 (35%) probands. the first-degree relatives had a greater chance of being affected and more often expressed a type of idiopathic generalized epilepsy (IGE) as compared to second-degree relatives of probands. It is concluded that the Indian probands express JME in the same manner as that reported in probands of different ethnic backgrounds. The risk of relatives being affected as well as their risk of expressing a type of IGE (including JME) varies as a function of the degree of relation with the probands. The lower incidence of febrile convulsions among relatives of JME probands could be related to recall bias.