Clinical expression and EEG features of patients with juvenile myoclonic epilepsy (JME) from North India

Abstract

We aimed to characterize the clinical profile, EEG features and response to treatment of juvenile myoclonic epilepsy (JME) patients. We studied 103 JME probands with a standard protocol recording age of onset, type, frequency of seizures, EEG data, detailed family history and response to treatment in a superspeciality university hospital in New Delhi. The mean age of onset of disease was 14.01 +/- 3.14 years with a male to female ratio of 1.19 : 1. The myoclonic jerks were present in all the probands, generalized tonic-clonic seizures (GTCS) were present in 75.72% and 11.65% probands had absence seizures. The incidence of febrile convulsion (FC) was higher (9.7%) in our JME probands reflecting some ethnic variation or ascertainment bias. There was a considerable delay (of approximately 5.26 +/- 4.61 years) in the diagnosis of JME in our probands because most of the patients were referred from private physicians who were possibly not familiar with this epileptic syndrome in this part of the world or thought it was a milder variety of GTCS. The family history was positive in 25.24% JME probands among first- and second-degree relatives. An interictal EEG was found to be abnormal in 81 (78.64%) patients with the predominant abnormality being generalized polyspike and wave (PSW) discharges (39.80% probands). The majority of patients (80.58%) showed a good response to treatment with valproate alone. There was a subset of patients (11.65%) who required the addition of other antiepileptic drugs (AEDs) for control of GTCS: 7.76% of JME patients were diagnosed as cases of GTCS by private practitioners before they were registered in our study and their seizures were well controlled on other AEDs (without valproate) prescribed by the referring physicians (carbamazepine-4, phenytoin-2, clobazam-2). It is concluded that the clinical features and EEG data of JME probands were comparable to reports from other parts of the world except for the fact that the incidence of FC was higher in our JME patients. There was a delay in the diagnosis of JME due to unfamiliarity with the epileptic syndrome among private practitioners in this part of the world. There was a subset of JME patients who had complete seizure control on other AEDs besides valproate.

Lamotrigine induced seizures in juvenile myoclonic epilepsy

“…Many patients do not mention about myoclonic jerks as they usually do not found as significant (Mehndiratta and Aggarwal, 2002). Our case also did not mentioned from myoclonic jerks, before admitted to our inpatient clinic.…”

Clinical study of myoclonic epileptic syndromes

“…7 At 60.7% incidence of myoclonic among males is comparable to other studies have shown higher incidence in males, few studies showed female preponderance pooled analysis of all studies may yield a good result. [12][13][14] Among 75 patients 52 patients were on valproate, 6 on carbamazepine, 3 patients on phenytoin, and 5 were on leviteracetam, 9 requiring multiple anti-epileptic drugs. Among patients on valproate therapy 88.6% had good response which was comparable most of studies on drug response in myoclonic epilepsy.…”

The Causes of DeThe Causes of Delayed Diagnosis of Juvenile Myoclonic Epilepsy in Vanlayed Diagnosis of Juvenile Myoclonic Epilepsy in Van

“…Literatürdeki geniş hasta çalışmalarından oluşan birçok çalışmada cinsiyet dağılımı bizim sonuçlarımız-dan (2.7:1) farklı olarak eşit dağılım (1:1) olduğu bildirilmiştir. [4][5][6] Çelik ve ark.nın JME'li hastalarının klinik ve EEG özellik-lerini değerlendirdikleri bir çalışmada kadın/erkek oranını bizim sonuçlarımıza benzer şekilde bulmuşlardır. Ayrıca fotosensitif hasta sayısı da benzer şekilde literatürde bildirilenden düşük sayıdadır.…”

“…Mehndiratta'nın Hindistan'da yaptığı geniş hasta serili çalışmada hastaların yalnızca %16.50'sinde sadece miyoklonik sıçramalar görü-lürken en sık miyokloni ve JTKN birlikteliği (%71.84) görül-düğü bildirilmiştir. [4] Türkiye'den Gömceli ve ark., yaptıkları bir çalışmada JME hastalarının %11.8'inde sadece miyokloni görüldüğü, en sık miyokloni ve JTKN birlikteliğinin (%60) görüldüğünü bildirmişlerdir. [6] Bizim çalışmamızda tedavi altındaki hiçbir hastanın tek başına miyokloni nedeniyle doktora başvurmadığı, JTKN nedeniyle tetkik edildikten sonra tanı aldıkları belirlendi.…”

“…JME hastaları için valproik asitin en etkili tedavi olduğu bilinmekle beraber literatürde karbamazepin, fenitoin, klobazamdan fayda gören JME hastalarının varlığı da bildirilmektedir. [4,10] Ne yazık ki bu hastalarda tedavi öncesi EEG'lerine ulaşılamamıştır. Çalışmamızda Van ilinde yaşayan ve epilepsi şikayeti ile polikliniğimize başvuran her hasta miyokloni varlığı açısından ayrıntılı sorgulandı, bu ayrıntılı değerlendirmenin sonucunda JME tanısındaki gecikmenin diğer çalışmalara göre daha kısa sürdüğü düşünülebilir.…”