Phenotypic analysis of juvenile myoclonic epilepsy in Indian families.
OBJECTIVE
Phenotypic analysis of juvenile myoclonic epilepsy (JME) is presented to document the variations in disease expression.


METHODS
Information on seizure type and frequency, seizure precipitating factors, electro-encephalographic (EEG) data, response to antiepileptic drugs (AEDs) and family history was collected on 500 Indian probands and 61 relatives with JME.


RESULTS
The overall clinical features, EEG characteristics, and familial occurrence were similar to other reports. JME probands and relatives having absences (56 of 561, 10%), those with only myoclonic jerks (MJ) or MJ with one generalized tonic clonic seizure (GTCS) in remission without treatment (five of 561, 1%) and those who required valproic acid (VPA) and another AED for seizure control (19 of 561, 3%) are examples of differential disease expression within JME. Seizures among those having photoparoxysmal response (PPR) on EEG responded very well to VPA alone while those with all three seizure types (MJ, GTCS and absences) were poor responders.


CONCLUSIONS
Recognition of clinical 'subtypes' among JME could have therapeutic implications and help improve JME phenotypic characterization for molecular studies.
Jain
S
S
Department of Neurology, Neurosciences Centre, All India Institute of Medical Sciences, New Delhi, India. satjain55@hotmail.com
Tripathi
M
M
Srivastava
A K
AK
Narula
A
A
D000293:Adolescent; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D004569:Electroencephalography; D005190:Family; D005260:Female; D006801:Humans; D007194:India / Q000453:epidemiology; D008297:Male; D020190:Myoclonic Epilepsy, Juvenile / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics*; D010641:Phenotype; D016896:Treatment Outcome
D000927:Anticonvulsants