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Author Vijai, J. ♦ Cherian, P. J. ♦ Sylaja, P. N. ♦ Anand, A. ♦ Radhakrishnan, K.
Source Sree Chitra Tirunal Institute for Medical Sciences & Technology
Content type Text
Publisher Seizure-european Journal of Epilepsy
File Format PDF
Language English
Subject Domain (in DDC) Technology ♦ Medicine & health ♦ Diseases
Subject Domain (in MeSH) Nervous System Diseases ♦ Diseases
Subject Keyword Neurology
Abstract Despite the distinctive clinical and electroencephalographic features known for five decades, even today, juvenile myoclonic epilepsy (JME) is frequently unrecognised and misdiagnosed in both developed and developing countries. Utilising 183 JME probands belonging to the South Indian state of Kerala, assembled through a tertiary referral centre for molecular genetic studies, we explored the phenotypic peculiarities, clinical genetics, and problems and pitfalls in the diagnosis of JME. At referral, only six (3.3%) patients carried the diagnostic label of JME, default in diagnosis resulted from failure to elicit the history of myoclonic jerks by the referring physicians. During the mean delay of 8.6 +/- 7.0 years in diagnosing JME, seizure control in the majority was poor due to inappropriate antiepileptic drug (AED) therapy. A history of epileptic seizures was obtained in 6.2% of the first-degree and 2.2% of the second-degree relatives of the probands; 37.7 and 11.1% of them, respectively, were diagnosed as JME. Although most of the clinical features of our cohort were in accordance with the literature, two notable differences we observed were the relatively increased occurrence of absence seizures and low frequency of photoparoxysmal responses. Although the variability in the clinical characteristics of JME may be apparent due to differences in the ascertainment of the data, they may well be an expression of a true clinical heterogeneity, and are in accordance with the complex and variable mode of inheritance and conflicting linkage studies reported for this syndrome from different ethnic groups. (C) 2003 BEA Trading Ltd. Published by Elsevier Science Ltd. All rights reserved.
Education Level UG and PG
Learning Resource Type Article
Educational Framework Medical Council of India (MCI)
Volume Number 12
Issue Number 7
Page Count 7
Starting Page 490
Ending Page 496