Transform the EEG signal charts to images with suitable readable extension. Careful image aligned to the origin point is done using axis point tool. Next the image been manipulated with the software. The curve point tool exports the largest number possible of EEG curve points to an abnorm1 with the required extension (CSV, XLS and TXT). The file is loaded to the MATLAB program for further processing and drawings. The resultant adequately enlarged EEG signal is produced with a percentage error less than or equal to +/- (0.5-2) microvolt as shown in figure(4,5) where the resultant EEG signals for both normal and JuvenileMyoclonicEpilepsy pathologic cases are drawn.
We report a child with West syndrome with onset at 8 months of age followed by some clusters of bilateral, arrhythmic myoclonic jerks of the upper limbs, mainly on awakening, synchronous with the generalized discharges of 4 Hz spike-wave occurring at 12 years of age and by co-occurrence of a later generalized tonic-clonic seizure at 14 years and four months, both sensitive to Levetiracetam suggesting a juvenilemyoclonicepilepsy.
In 1822, “myoclonus” was described as “a symptom associated with epilepsy” by Pritchard . Delasiave in 1854 termed it “petit mal moteur”. In 1867, Herpin gave the first detailed description of a patient with juvenilemyoclonicepilepsy (JME) calling the myoclonic jerks “secousses”. In 1881, Gowers classified the jerks among the generalised “auras” and considered them to be epileptic. Unvericht described progressive myoclonicepilepsy in 1901 but failed to recognise the existence of more benign variants. In 1957, Janz and Christian published their article on 47 patients with “impulsive petit mal”. Lund in 1975 introduced the term JME and this term was soon admitted into the international classification system thereafter. Until now, JME continues to be under-appreciated and under-diagnosed. Accurate diagnosis is important as it usually responds well to treatment with appropriate anticonvulsants and misdiagnosis often results in unnecessary morbidity. In addition lifelong therapy is usually indicated as the natural history is one of relapse off treatment, even after a prolonged seizure-free period .
Juvenilemyoclonicepilepsy in RRs has a mean age of onset of six months and a median age of onset of 3.5 months. Because the literature on human epilepsy syndromes refers to the mean age of onset, the mean value was also used in RRs with JME for comparison with other human epilepsies. However, median age of onset may better reflect the true age of onset. Studies investigating the developmental stages in dogs, especially the differences between the various breeds and comparison to child development, are scarce. In general, the development of locomotor skills precedes that of social skills in dogs, whereas primary socialization precedes locomotor development in humans (SCOTT & FULLER, 1965). In puppies, the neonatal period is followed by the socialization period (until the age of twelve weeks), the juvenile period (twelve weeks - six months or longer), and adolescence (~ six months - one to two years depending on the breed) (SCOTT & FULLER, 1965; SERPELL & DUFFY, 2016). Therefore, 14 dogs in the present study had a juvenile or adolescent age of onset. However, ten dogs were between six and ten weeks of age when they first had a myoclonic seizure. This observation may challenge the classification of a juvenileepilepsy syndrome. Nevertheless, some variance in age of onset is also encountered in human epilepsy syndromes. The introduction of two groups of diagnostic criteria in human JME mirrors this clinical heterogeneity (KASTELEIJN-NOLST TRENITÉ et al., 2013b; WOLF et al., 2015). Class I criteria are quite narrow and require an age of onset of ten to 25 years, whereas class II criteria are more flexible and allow an age of onset of six to 25 years (KASTELEIJN-NOLST TRENITÉ et al., 2013b; WOLF et al., 2015; YACUBIAN, 2017). Therefore, an age of onset during childhood does not exclude the diagnosis of JME in humans.
Juvenilemyoclonicepilepsy (JME) is one of the most common forms of idiopathic generalized epilepsy. Clinical presentation of this disorder includes myoclonias (usually in upper extremities) with tonic-clonic generalized seizures and absences . JME belongs to age-dependent type of idiopathic generalized epilepsy. Age of onset is usually within 8 to 26 years, and incidence peaks at 14-16 years. The onset is triggered by stress, disturbances in circadian rhythm (night sleep deprivation, early wake-ups), menarche in teenage girls . Despite preserved intelligence, there is a high risk of anxiety and depressive disorders. This leads to social disadaptation and unemployment, which considerably aggravates social prognosis for patients with JME .
Steven Karceski, MD WHAT WAS THE STUDY ABOUT? In their article “Juvenilemyoclonicepilepsy 25 years after seizure onset: A population-based study” (Neurology 2009; 73:1041–1045), Drs. Camfield and Camfield stud- ied something that has never been evaluated: how a group of people with this kind of epilepsy do over a long period of time. On the surface, it seems that it would be easy to identify a group of people, follow them for a long time, and then describe what hap- pened to them. However, in our modern world, where people move frequently and sometimes over long distances, long-term studies can be very hard—if not impossible—to do.
Juvenilemyoclonicepilepsy (JME) is a generalized epilepsy syndrome  with a prevalence of 4–10% of all patients with epilepsy . It manifests typically in the second decade . The main seizure types are myoclonic jerks, generalized tonic-clonic seizures and, less frequently, absences . The syndrome has a strong genetic back- ground with at least 40% of patients presenting a positive family history . Intensive genetic studies could identify genes associated with JME coding for various ion channels, but also acetylcholine receptors, lysosomal membranes, and for the regulation of apoptosis (review in ). Typical interictal EEG-findings are generalized polyspikes and generalized spike and wave discharges . Despite being generalized, these EEG findings may have a lateralized maximum in about one-third of patients , and photo- sensitivity can be recorded in 30–90% of patients .
JuvenileMyoclonicEpilepsy (JME) is the most common form of IGE (9). Previous studies have shown neuropsychological deficits in patients with JME, affecting mainly frontal lobe functions, such as visual working memory, mental flexibility, concept formation, cognitive speed, executive functions mainly planning, perseveration, task switching, verbal fluency, and response inhibition (10-15). However, the presence of cognitive impairments and related factors in JME patients has not yet been thoroughly investigated despite the extensive literature on cognition in other types of epilepsy. Moreover, most studies on patients with epilepsy have not considered confounding factors such as depression in the neuropsychological evaluation. The aim of this study was 1) to compare cognitive function in JME patients with sex, age and education-matched healthy controls using several neuropsychological tests and 2) to evaluate changes in cognitive function due to epilepsy and mentioned
Abstract: The patient was a 27-year-old mildly intellectually disabled woman with autistic spectrum disorder (ASD) and juvenilemyoclonicepilepsy (JME). The patient’s condition had shown resistance to many antiepileptic drugs; however, perampanel (PER) was effective. The patient’s electroencephalogram (EEG) records were consistent with those of JME, and brain magnetic resonance imaging showed a normal cerebrum and limbic system but the characteristic sequelae of cerebellar insults, such as cerebellitis. The discontinuation of lamotrigine (LTG) induced suspected myoclonic atonic seizures (MAS) that were worsened by adding levetiracetam (LEV) but improved by the administration of rafinamide (RFN). The further administration of PER improved all symptoms and EEG findings of the patient within two weeks, and the patient has been seizure-free for more than two years. The present case report demonstrates that the sequelae of neonatal cerebellitis can cause JME, and the withdrawal of LTG induces myoclonic atonic seizures. PER can modify the pathogenic cerebellar focus of JME.
Juvenilemyoclonicepilepsy (JME) is characterised by myoclonia during awakening, generalised tonic-clonic seizures, typical absences and usually presents for the first time at the age of 12 to 18 years old. This article describes the results of a clinical study into JME phenotypes in patients liv- ing in the Siberian Federal District. We have shown that the incidence of JME among males was lower than among females (1:1.9) and JME debut age for males was higher than in those women. Classical phenotype of JME (Type I) was dominant and more common in males compared to fe- males—70.4% vs. 58.5%, respectively. The JME phenotype with worse prognosis in terms of achieving stable clinical remission (Type II) occurred 3.5 times more frequently among female pa- tients compared to male (13.2% vs. 3.7% respectively). The findings resulting from this study give a deeper insight into the diagnosis and prognosis of this form of idiopathic generalised epilepsy in predisposed families.
13 their epilepsy and express a desire to try withdrawal. It is interesting to speculate that these opposing views tended to side with “patient preference” over “doctor’s orders” in our cohort, perhaps reflecting the increasing move towards patient-centred medicine. Their doctors listened to and supported them in attempting to come off AEDs, even though the relapse rates turned out to be 100% for JAE (compared to 25%), and 80% (compared to 36%) for JME.
People with drug-refractory JME performed least well on tests of mental flexibility and inhibition. People with the poorest naming ability also had high anxiety scores and reported high levels of cognitive problems. Furthermore, they had a higher mean neuroticism score with a small to medium effect size. People with the lowest inhibition switching scores had a longer duration of epilepsy and also reported high levels of cognitive problems. However, the whole sample was borderline impaired on inhibition switching. Impaired inhibition is a consistent feature in JME analysis [12, 16, 72], which suggests that this impairment may be caused by a fundamental structural or functional brain abnormality shared by all people with JME. Past studies that have assessed healthy siblings of patients with JME have also found that they perform worse than healthy unrelated controls . This suggests that impaired inhibition may be genetically determined. The current thesis indicates that the common impairment in inhibition switching is exacerbated by the duration of epilepsy.
In this study, we identi ﬁ ed several predictor factors of outcome in JME patients based on a retrospective analy- sis of 63 patients admitted in a single center. First, the onset age of JME <16 years was associated with adverse epilepsy outcomes. We selected the age of onset at 16 years as the predictive variable because epilepsy over 16 years of age is de ﬁ ned as adult epilepsy. 15 The mean age of onset of JME was 14.6, which was similar to the previously reported mean age of 14.3. 11 A previous study showed that the younger onset age of seizure, the higher the correlation with more severe intellectual impairment and biological behavior conditions. 16 The age of onset of seizure may point to a particular disease or cause. Two studies found that younger age of onset of JME was more likely to associate with persistent seizures in JME, which may be related to the insensitivity of younger age to AED treatment. 17,18 However, two long-
with a female-to-male ratio of 1.4:1. Eight patients (66.7%) were referred for seizure disorders: two had idiopathic pho- tosensitive epilepsy, two had juvenilemyoclonicepilepsy (JME), three had childhood absence epilepsy, and one had eyelid myoclonia with absences. Two were referred with the diagnosis of migraine, one with headache and poor scholastic performance, and one with recurrent attacks of dizziness for investigation (Figures 2 and 3). Seven of the twelve patients (58.3%) had a previous EEG done without testing for pat- tern sensitivity. Two patients (16.6%) had pattern sensitivity without photosensitivity.
in child-friendly formulation. However, while the advent of the new AEDs should be welcomed, it is important to use the older, ‘conventional’ AEDs appropriately and initially, particularly in view of the limited data on both monotherapy efficacy and longterm safety for newer compounds. The classic example is the use of carbamazepine or oxcarbazepine for juvenile-onset absence or juvenilemyoclonicepilepsy, when it is known to exacerbate both the myoclonic and absence seizures which characterise these syndromes. Further, when initiating teenage girls on medication that may need to be lifelong, the possibility of pregnancy and the effects of AEDs in utero need to be taken into consideration and individuals counselled accordingly; this is particularly important when discussing and prescribing sodium valproate.
Generalized genetic epilepsies, previously known as primary generalized or idiopathic generalized epilepsies, refer to a group of syndromes with known or presumed genetic origin, with juvenilemyoclonicepilepsy (JME) being most common. The syndrome’s clinical hallmark is myoclonus. Most patients also experience generalized tonic-clonic seizures and more rarely absences. 1 JME is associated with cognitive impairment, mainly aﬀecting frontal lobe function, together with emo- tional instability and psychiatric comorbidities. 2 While visual MRI analysis does not reveal obvious structural abnormali- ties, 2 morphometric studies comparing patients to healthy individuals have shown evidence for subtle cortico-subcortical structural derangements, particularly in the thalamus and frontal lobe. 2–4 Notably, ﬁrst-degree relatives of patients with JME are at risk for epilepsy and may present with similar cognitive traits, supporting genetic underpinning. 5,6 Not- withstanding a complex polygenetic inheritance suspected in most patients, mutations in the EFHC1 gene have shown to be disease-causative. 7 In experimental models, loss of function of this gene regulating cell division and migration leads to disrupted corticogenesis, 8 which may explain abnormal cor- tical lamination observed in human postmortem studies. 9 MRI lends metrics to study the interplay among brain struc- ture, genes, and environment, thereby providing opportuni- ties to assess endophenotypes; that is, the intermediate traits more closely related to the genetic makeup than clinical manifestations. 10 An important characteristic of an endo- phenotype is its presence in unaﬀected family members at a higher rate than in the general population; notably, studying asymptomatic sibling controls for disease activity and medication eﬀects while ensuring comparable age and environmental factors. 11 In psychiatric disorders, neuroimaging- derived endophenotypes have successfully mapped eﬀects of a number of genetic variants, necessitating smaller samples than those required in traditional case–control studies. 12
experienced child neurologist and epileptologist in India three years later. PME or neurodegenerative disorder should have been suspected without delay, particularly while there was no response to multiple AEDs and there was functional regression noted in a child with completely normal developmental skills. The commonest diagnostic mistake in such a case at early state is juvenilemyoclonicepilepsy (JME), idiopathic generalized epilepsy (IGE) or complex partial seizures 1,2,38 , differentiated clinically with the
Genetic (idiopathic) generalized epilepsies (GGEs) are a well-recognized subgroup of generalized epilepsy with a presumed genetic etiology. They comprise 15 – 20% of all epilepsies. 1,2 GGEs are characterized by different combinations of generalized seizures such as absence, myoclonic, and gener- alized tonic – clonic and generalized epileptiform discharges on electroence- phalography (EEG). Childhood absence epilepsy, juvenile absence epilepsy, juvenilemyoclonicepilepsy, and epilepsy with generalized tonic – clonic sei- zures alone are well-characterized syndromes of GGEs. 3 The frequency of status epilepticus (SE) in patients with GGEs has been poorly studied, 4 with most studies on SE being case reports or case series. In a recent, population- based study, no cases of typical absence or myoclonic SE were found; 5 in a cohort, hospital-based study, absence SE was found to account for <1% of cases, while no episodes of myoclonic SE were identi ﬁ ed. 6 The aim of this study was to evaluate the frequency of different forms of SE in a cohort of patients with GGEs.
Article abstract—In a series of 24-hour ambulatory EEG recordings from 1,000 consecutive adult outpatients (44.5% with generalized and 55.5% with partial epilepsy, one recording per patient), the authors found only 46 (4.6%) activations of epileptiform discharges on awakening. All recordings came from patients with idiopathic generalized epilepsy, predominantly with juvenilemyoclonicepilepsy and generalized tonic-clonic seizures on awakening. Multiple spike discharges that develop with an unusually delayed onset after arousal (more than 10 minutes) might help to discriminate juvenilemyoclonicepilepsy.
CONCLUSIONS DS is a severe epileptic encepha- lopathy that is difficult to recognize at the time of onset. Early recognition and diagnosis of DS and management with appropriate anticonvulsants and treatment plan may reduce the seizure burden and improve long-term developmental outcome. The di- agnosis should also be considered in adults with infantile-onset refractory epilepsy, by reevaluation of childhood history and SCN1A testing.