Lafora disease is a rare genetic disease caused by the accumulation of malformed glycogen products in the tissues. The disease usually manifests with idiopathic generalized tonic colonic seizures with poor response to antiepileptic drugs (AEDs). We report the case of a 19-year-old girl with the chief complaint of generalized refractory seizures, jerky movement, and cognitive deterioration with a positive history of EPILEPSY in her younger brother. The disease onset was at the age of 16 with jerky movement and blurred vision. She was admitted to our ward to have a long-term video EEG monitoring for further evaluation. Clinical presentation accompanied with abnormal EEG characteristics for Lafora disease, and the positive familial history were highly suggestive of Lafora disease. The disease was confirmed with genetic testing by which the mutation of EPM2A was detected.

In consequence of newer research juvenile MYOCLONIC EPILEPSY (JME) is no longer seen as a homogeneous disease. The causes of the existing variance are only partially known yet. We discuss to what extent the phenotypical spectrum of this polygenetically determined disorder expresses genetically defined endophenotypes, or is due to mere quantitative differences in the expression of the core phenotype. Of the three common seizure types of JME, MYOCLONIC, generalized tonic-clonic and absences, absences also occur independently and are strong candidates for an endophenotype. Focal features may in some patients be seen in clinical seizures or the EEG but rarely in both. They have no morphological correlates. In a system EPILEPSY, local manifestations are possible, and some are due to reflex mechanisms. Of the four reflex epileptic traits common in JME, photosensitivity and praxis induction appear related to basic mechanisms of the core syndrome, whereas language-induced orofacial reflex myocloni and eye closure sensitivity are also seen in other clinical contexts and therefore seem to represent endophenotypes. Cognitive abnormalities indicating slight frontal lobe dysfunction seem to be ubiquitous in JME and are also seen in unaffected siblings of patients. Cluster B personality disorder is found in 1.3 of patients, representing a more severe expression of the underlying pathology.Treatment response and prognosis seem to be affected by an interplay of the described factors producing the severest end of the JME spectrum. The spectrum appears to be due to an interaction of stronger or weaker expression of the core phenotype with various endophenotypes.

Objective Juvenile MYOCLONIC EPILEPSY (JME) is supposedly the most frequent subtype of idiopathic generalized epilepsies (IGE). The aim of this study was to determine the prevalence of JME and comparison of patients’ demographics as well as timeline of the disease between positive family history epileptic patients (PFHE) and negative family history epileptic patients (NFHE) among sample of Iranian epileptic patients.Materials & Methods From Feb.2006 to Oct.2009, 1915 definite epileptic patients (873 females) referred to EPILEPSY clinics in Isfahan, central Iran, were surveyed and among them, 194 JME patients were diagnosed. JME was diagnosed by its specific clinical and EEG criteria. Patients were divided into two groups as PFHE and NFHE and data were compared between them.Results JME was responsible for 10% (194 patients) of all types of epilepsies. Of JME patients, 53% were female. In terms of family history of EPILEPSY, 40% were positive. No significant differences was found between PFHE and NFHE groups as for gender (P>0.05). Age of EPILEPSY onset was significantly earlier in PFHE patients (15 vs.22 yr, P<0.001). Occurrence of JME before 18 yr old among PFHE patients was significantly higher (OR=2.356, P=0.007). Conclusion A family history of EPILEPSY might be associated with an earlier age of onset in patients with JME.

Introduction: Genetic factors are the only identified cause of juvenile MYOCLONIC EPILEPSY but some of the cases do not have affected first degree relatives. In this study we wanted to know whether subjects with sporadic and familial JME differ in terms of clinical characteristics and response to treatments. Differences would support the hypothesis of a different etiology for sporadic cases.Methods: We analyzed 70 patients with JME, diagnosed on clinical and EEG criteria. All patients and their first degree relatives were interviewed. Patients with first degree relatives affected with epileptic seizures were regarded as familial and the others were regarded as sporadic.Results: 34.3% of the patients had familial EPILEPSY. The types of the seizures, age at the onset of the seizures, response to treatment and side effects of the drugs did not differ between familial and sporadic cases.Conclusions: No difference was found between familial and sporadic JME patients. This doesn’t support the hypothesis that sporadic and familial JME cases have separate etiologies.

Background & objectives: EPILEPSY is a chronic neurological disorder that disrupts normal brain activity due to abnormal electrical discharge of brain cells. Mood swings, depression and anxiety are the common complications in EPILEPSY.The aim of the present study was to compare alexithymia in patients with Tonic-clonicEPILEPSY, Juvenile MYOCLONIC EPILEPSY (JME), and healthy individuals.Methods: In this casual-comparative study, sampling was performed by convenience sampling method. The study population consisted of all epileptic patients and the study sample included 134 participants (N=74 Patients and N=60 healthy people) individuals aged 18-35 years. Among the patients, 14 were excluded due to lack of selection criteria and 60 samples (N=29 with MYOCLONIC and N=31 with Tonic-clonic EPILEPSY) remained.Data regarding alexithymia was gathered by Toronto Alexithymia Scale, and analyzed by ANOVA, Scheffé post - hoc test and t-test were performed for independent groups.Results: Findings showed that the mean of Alexithymia in those with JME, tonic-clonic EPILEPSY and normal individuals were 64.44, 61.41, and 54.24, respectively. The difference between the two groups with MYOCLONIC and tonic-clonic EPILEPSY was notstatistically significant. However, there was a significant difference found between those with tonic-clonic EPILEPSY and normal individuals (T=6.82; p<0.01). In addition, patients with JME and tonic-clonic EPILEPSY had more difficulty in identifying and describing emotions, and external thought direction compared to normal ones, while no such a difference was observed between the two groups with EPILEPSY.Conclusion: EPILEPSY is accompanied by reduced processing of emotional information such as alexithymia. Individuals with tonic-clonic and juvenile MYOCLONIC EPILEPSY are less qualified for recognizing and describing emotional information, and their intellectual orientation is mostly external. Also, since the location of discharge in both types is widespread and similar, no significant difference in alexithymia was observed between the patients with tonic-clonic and MYOCLONIC EPILEPSY.

Background: Juvenile MYOCLONIC EPILEPSY (JME) is one of the most common idiopathic generalized seizures that include about 5-11% of epilepsies. According to clinical features of JME, this disease could not be diagnosed correctly in clinics which results in inappropriate treatment. However, the clinical response of JME to treatment is excellent and the patients need longlife treatment. Methods: In a prospective observational study, JME subjects were selected among epileptic patients referred to neurological clinic of Isfahan University of Medical Sciences, using clinical and electroencephalographical criteria. The clinical, demographic and therapeutic treatment characteristics were written in special questionnaires. Patients were followed every 3 months for one year. Results: Among 985 epileptic patients, 50 (5%) subjects with JME were found. Female to male ratio was 3.5. The mean onset age of the seizure was 13 years. Familial history was positive in 38% of them and the precipitating factors were found in 66%. Stress, flashing lights, somnolence, and fatigability were the precipitating factors in 79% of occasions. All of patients were treated. Finally, 84% of patients responded to treatment completely and 14% of subjects responded partially and only 2% of them were refractory to treatment. Conclusion: JME is more prevalent in female subjects in Iran; however the other clinical features of this form of EPILEPSY are compatible with the previous international studies. More evaluations including genetic investigation is recommended for JME in Iran.

Introduction: Juvenile MYOCLONIC EPILEPSY (JME) is a frequent type of generalized seizures which is often associated with Generalized Tonic Clonic Seizure (GTCS) and absence attacks.Methods: Consecutive patients with probable diagnosis of seizure referred to Vali e-Asr and Emam Reza hospitals in southern Khorasan during March 2005- May 2007 were evaluated. Diagnosis of EPILEPSY and JME was made by neurologists based on the manifestations, history and EEG findings. Patients who had structural brain lesion were excluded.Results: 396 epileptic patients including, 32 JME cases (8.1%; 18 males, 14 females) were investigated. Mean age of JME onset and age at the time of diagnosis was 12.4 years and 14.2 years respectively. 27 patients with JME had GTCS and 7 patients had absence EPILEPSY .Triad of Myoclonia, GTCS and absence was seen in only 4 cases and 2 cases had pure Myoclonia. Myoclonia was predominantly unilateral or at least unilateral at onset in 8 patients (25%). In 28 cases (87.5%) most of attacks occurred on awakening. Sleep deprivation was the most important precipitating factor which was found in 26 cases (81.3%). Characteristic epileptic pattern was found in 71.9% of cases with JME in the first EEG which was promoted to 94% with repeating the EEG. A positive familial history for EPILEPSY was seen in 25%.Conclusion: JME is a frequent subtype of generalized epilepsies which is often associated with GTCS and absence. JME patients usually have epileptic pattern in EEG.

Introduction: The writer's cramp syndrome is a kind of local dystonia which appears in the hands due to uncontrollable muscular spasms, making a hard and tiring job of writing for patients. Case Report: The present study investigates a 55 year old married male, a bank officer, who has been suffering from MYOCLONIC EPILEPSY and compulsion since the age of 17, and a few years later developed the writer's cramp syndrome following a sudden stress. There is no report on the simultaneity of the writer's cramp, MYOCLONIC EPILEPSY and compulsion. Conclusion: The patient's MYOCLONIC EPILEPSY condition has been under control by a daily dosage of 5 mg of diazepam. However, the writer's cramp syndrome and the compulsion have not been under appropriate therapeutic control.