Syndromes of Idiopathic Generalized Epilepsies Not Recognized by the International League Against Epilepsy

Summary:  This chapter assesses probable epileptic syndromes within the idiopathic generalized epilepsies (IGE) that have not yet been recognized by the International League Against Epilepsy (ILAE). Jeavons syndrome, a purely reflex IGE that predominantly manifests with eyelid myoclonia and electroencephalogram (EEG) abnormalities on eye closure, is the most distinct and undisputed of the syndromes. Another is autosomal-dominant cortical tremor, myoclonus, and epilepsy, a purely monogenic disorder that has been documented in numerous reports, mainly from Japan and Italy. Perioral myclonia with absences is certainly a seizure type that may constitute an IGE syndrome when it is associated with a number of other clinical and EEG manifestations. Similarly, many patients suffer for years from phantom absences, a type of mild absence, before a first generalized tonic-clonic seizure that usually occurs in adulthood. Both perioral myoclonia with absences and phantom absences are clinically significant because they are probably lifelong and are associated with a very high incidence (around 50%) of absence status epilepticus that may escape diagnosis and appropriate treatment. The position of early childhood IGE, which manifests mainly with typical absence seizures that are distinctly different from childhood absence epilepsy and other recognized IGE syndromes, is less clear. The prevalence of these syndromes is significant. Their identification allows better clinical management and is important for genetic research and counselling. In addition, their recognition permits application of exclusion criteria for a more purified definition and a better understanding of the true boundaries of the other IGE syndromes already accepted by the ILAE.     

Idiopathic generalized epilepsies with typical absences

Idiopathic generalized epilepsy (IGE) comprises several subsyndromes. These are principally: benign neonatal familial convulsions, benign neonatal convulsions, benign myoclonic epilepsy in infancy, childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy, epilepsy with generalised tonic-clonic seizures on awakening. In addition, there are less well-recognized syndromes, such as eyelid myoclonia with absences. The pathophysiology of the IGE syndromes is not fully understood; it is evident that typical absences are the result of abnormal oscillations between the thalamus and cerebral cortex. Genetic studies are in progress to elucidate the biochemical defects underlying the conditions. The clinical and electroencephalographic features of the individual subsyndromes are distinct, but some patients may be difficult to classify into a particular subgroup. A correct syndromic diagnosis is important, as treatment strategies differ for patients with the different forms of IGE, and it is necessary for genetic research. Received: 4 February 1997     

How to diagnose and classify idiopathic (genetic) generalized epilepsies

Idiopathic or genetic generalized epilepsies (IGE) constitute an electroclinically well‐defined group that accounts for almost one third of all people with epilepsy. They consist of four well‐established syndromes and some other rarer phenotypes. The main four IGEs are juvenile myoclonic epilepsy, childhood absence epilepsy, juvenile absence epilepsy and IGE with generalized tonic‐clonic seizures alone. There are three main seizure types in IGE, namely generalized tonic‐clonic seizures, typical absences and myoclonic seizures, occurring either alone or in any combination. Diagnosing IGEs requires a multidimensional approach. The diagnostic process begins with a thorough medical history with a specific focus on seizure types, age at onset, timing and triggers. Comorbidities and family history should be questioned comprehensively. The EEG can provide valuable information for the diagnosis, including specific IGE syndromes, and therefore contribute to their optimal pharmacological treatment and management.     

Typical Absence Status in Adults: Diagnostic and Syndromic Considerations

Summary: Purpose: To study the electroclinical features of typical absence status (TAS) in adults with syndromes of idio-pathic generalized epilepsies (IGEs).
Methods: Twenty-one patients with one or more spells of TAS were identified among 136 consecutive adult patients with IGEs. All patients with TAS had comprehensive electroclinical investigations and EEG or video-EEG recorded absences.
Results: TAS occurred in 24.4% of 86 patients who had IGEs with typical absences alone or in combination with other seizures presisting in adult life. The prevalence of TAS appeared to be syndrome related, ranging from as high as 57.1% in perioral myoclonia with absences and 46.2% in "phantom" absences with GTCS to as low as 6.7% in juvenile myoclonic epilepsy. A varying degree of impairment of cognition was the cardinal clinical symptom shared in all TAS, but corresponding syndromes of IGE were often betrayed by other symptoms such as eyelid or perioral myoclonia. In phantom absences with GTCS, TAS was more numerous (p S 0.05) and more frequently the first overt seizure type (p = 0.006) than in any other IGE. Only in the syndrome of eyelid myoclonia with absences, TAS was always situation related, mainly as a result of antiepileptic drug discontinuation.
Conclusions: The clinical EEG semiology and prevalence of TAS appear to be syndrome related with the highest prevalence in the syndromes of perioral myoclonia with absences and phantom absences with GTCS (p = 0.0024).     

Worsening of seizures by oxcarbazepine in juvenile idiopathic generalized epilepsies

PURPOSE: Several studies have shown that carbamazepine (CBZ) may aggravate idiopathic generalized epilepsy (IGE). Oxcarbazepine (OXC) is a new drug chemically related to CBZ. We report six cases of juvenile IGE with a clear aggravation by OXC. METHODS: We retrospectively studied all patients with IGE first referred to our epilepsy department between January 2001 and June 2003 and treated with OXC. RESULTS: During this period, six patients were identified. All had an aggravation of their epilepsy in both clinical and EEG activities. OXC had been used because of an incorrect diagnosis of focal epilepsy or generalized tonic-clonic seizures (GTCSs) of undetermined origin (no syndromic classification of the epilepsy). Before OXC, only one patient had experienced a worsening of seizures with an inadequate drug (CBZ). Four had juvenile myoclonic epilepsy, one had juvenile absence epilepsy, and one had IGE that could not be classified into a precise syndrome. OXC (dosage range, 300-1,200 mg/day) was used in monotherapy in all of them except for one patient. Aggravation consisted of a clear aggravation of myoclonic jerks (five cases) or de novo myoclonic jerks (one case). Three patients had exacerbation of absence seizures. One patient had worsened dramatically and had absence status, and one had de novo absences after OXC treatment. The effects of OXC on GTCSs were less dramatic, with no worsening in frequency in three and a slight increase in three. CONCLUSIONS: OXC can be added to the list of antiepileptic drugs that can exacerbate myoclonic and absence seizures in IGE.     

A study of idiopathic generalised epilepsy in an Irish population.

Idiopathic generalised epilepsy (IGE) is subdivided into syndromes based on clinical and EEG features. PURPOSE: The aim of this study was to characterise all cases of IGE with supportive EEG abnormalities in terms of gender differences, seizure types reported, IGE syndromes, family history of epilepsy and EEG findings. We also calculated the limited duration prevalence of IGE in our cohort. METHODS: Data on abnormal EEGs were collected retrospectively from two EEG databases at two tertiary referral centres for neurology. Clinical information was obtained from EEG request forms, standardised EEG questionnaires and medical notes of patients. RESULTS: two hundred twenty-three patients met our inclusion criteria, 89 (39.9%) male and 134 (60.1%) females. Tonic clonic seizures were the most common seizure type reported, 162 (72.65%) having a generalised tonic clonic seizure (GTCS) at some time. IGE with GTCS only (EGTCSA) was the most common syndrome in our cohort being present in 94 patients (34 male, 60 female), with 42 (15 male, 27 female) patients diagnosed with Juvenile myoclonic epilepsy (JME), 23 (9 male, 14 female) with Juvenile absence epilepsy (JAE) and 20 (9 male, 11 female) with childhood absence epilepsy (CAE). EEG studies in all patients showed generalised epileptiform activity. CONCLUSIONS: More women than men were diagnosed with generalised epilepsy. Tonic clonic seizures were the most common seizure type reported. EGTCSA was the most frequent syndrome seen. Gender differences were evident for JAE and JME as previously reported and for EGTCSA, which was not reported to date, and reached statistical significance for EGTCA and JME.     

Late-onset idiopathic (genetic) generalized epilepsies: Clinical and EEG findings

PurposeWe investigated the occurrence and clinical characteristics of late-onset idiopathic generalized epilepsies (IGEs). We also provided a statistically meaningful definition for late-onset IGE in this large cohort of patients.MethodsIn this cross-sectional retrospective chart review study, all patients with a clinical diagnosis of IGE were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences from 2008 until 2019. We defined “late-onset IGE” according to the following equation: those with an age at onset of their seizures above X years [X = mean age at the seizure onset of all patients + 2 × (standard deviation)].ResultsDuring the study period, 601 patients with IGE were registered at our epilepsy clinic. Late-onset IGE was defined as having an age at onset of above 26 years. Fifteen patients (2.5%) had late-onset IGE. The syndromic diagnosis of these patients included: IGE with absences [6 patients (40%)], generalized tonic-clonic only (GTC-only) [5 patients (33.3%)], and juvenile myoclonic epilepsy (JME) [4 patients (26.7%)].ConclusionWhile late-onset IGE (IGE with an age at onset of above 26 years) is not common, one should consider the possibility of its occurrence in adults with new-onset seizures. This condition shares many of the clinical and electroencephalograic features of classical IGEs, which supports the hypothesis that IGE syndromes in different age groups share common biological determinants.     

Idiopathic generalized epilepsies with versive or circling seizures

OBJECTIVES: To describe the electroclinical features of the idiopathic generalized epilepsies (IGEs) with versive or circling seizures. METHODS: Sixteen patients with versive or circling seizures and interictal electroclinical features of IGE were studied. Patients with insufficient clinical or imaging data, with a follow-up period less than 1 year or with partial seizures in addition to the versive or circling ones were excluded from the study. All patients underwent full interictal clinical and neurophysiological studies. The EEG patterns of 13 versive or circling seizures from 4 patients were also analyzed. RESULTS: A specific IGE syndrome was recognized in 9 out of the 16 patients (56%). More specific, 1 patient had childhood absence epilepsy (CAE), 4 had juvenile absence epilepsy (JAE), and 4 had juvenile myoclonic epilepsy (JME). No specific IGE syndrome was recognizable in the remaining 7 patients (44%). These 7 patients had a juvenile epileptic syndrome (mean age at onset of seizures was 15.7 years) characterized by versive or circling seizures followed or not by generalized tonic-clonic fits. Three main EEG patterns were identified during versive or circling seizures: 1) generalized spike-and-wave discharges at 3-4 cps; 2) generalized polyspike-and-wave discharges at 1 to 2.5 cps beginning with generalized fast activity at 12-14 cps, and 3) generalized spike-and-wave discharges at 3-4 cps intermingled with fast activity at 12-14 cps. Most patients had good response to treatment on a single drug regimen (mainly valproic acid). CONCLUSIONS: Versive or circling seizures may occur in the context of an IGE. Although many individuals share the features of different IGE syndromes including CAE, JAE and JME, a consistent number of patients, who show circling or versive seizures solely, remain without a specific syndromic diagnosis. When occurring in the context of IGE, circling or versive seizures do not worsen the prognosis.     

Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy

PURPOSE: A few reports have described focal electroencephalographic or clinical features or both of juvenile myoclonic epilepsy (JME), but without video-EEG documentation. We examined focal clinical and EEG features in patients with JME who underwent video-EEG monitoring. METHODS: Twenty-six patients (nine males and 17 females) who had seizures recorded during video-EEG monitoring were included. Age at seizure onset was 0 to 22 years (mean, 12.3 years), and age at monitoring was 12 to 44 years (mean, 26.5 years). In one patient with left parietooccipital epilepsy, primary generalized tonic-clonic seizures developed after resection of the parietal tumor. Two patients had both temporal lobe epilepsy and JME. Videotaped seizures in each patient were analyzed. Interictal and ictal EEG also were analyzed for any focal features. RESULTS: Focal semiologic features were observed in 12 (46%) of 26 patients. Six patients had focal myoclonic seizures, and two had Figure 4 sign: one with version to the left, and another had left version followed by Figure 4 sign, and left arm clonic seizure. Their ictal EEGs were generalized at onset but with a lateralized evolution over the right hemisphere. The patient who had both JME and left parietooccipital epilepsy, right arm clonic seizure, and Figure 4 sign was seen during a generalized EEG seizure. Interictally, one patient had temporal sharp waves, and another had run of spikes in the right frontal region. CONCLUSIONS: Fourteen (54%) of 26 patients with JME exhibited focal semiologic or electroencephalographic features or both. Video-EEG was essential in reaching a correct diagnosis and choosing an appropriate antiepileptic drug regimen.     

Clinical experience with levetiracetam in idiopathic generalized epilepsy according to different syndrome subtypes.

Clinical experience in open-label studies and anectodal reports suggest that levetiracetam is effective in generalized epilepsy. In this open-label prospective study, 19 patients (3 men, 16 women) affected by idiopathic generalized epilepsy were followed for at least 6 months following the introduction of levetiracetam. Patients were categorized according to syndrome subtype: juvenile myoclonic epilepsy (8), juvenile absence epilepsy (5), childhood absence epilepsy (4), and eyelid myoclonia with absences (2). Eleven patients received levetiracetam as monotherapy, eight as add-on therapy. Effectiveness was demonstrated in 18 patients: 13 became seizure-free (five juvenile myoclonic epilepsy, five juvenile absence epilepsy, three childhood absence epilepsy), and five achieved significant reductions in seizure frequency (three juvenile myoclonic epilepsy, one childhood absence epilepsy, one eyelid myoclonia with absences). Only one patient experienced no change in seizure frequency (eyelid myoclonia with absences). Clinical improvement was accompanied by EEG abnormality suppression or reduction. Levetiracetam was well tolerated; no patient reported side-effects.     

Perioral myoclonia with absences: an overlooked and misdiagnosed generalized seizure type

OBJECTIVE: The goal of this report is to draw attention to perioral myoclonia with absences, a rare and underrecognized generalized seizure type. METHODS: We describe a 31-year-old, mildly retarded patient who had absence seizures with prominent perioral movements and rare generalized tonic-clonic convulsions. He had an attack of status epilepticus consisting of asymmetrical perioral myoclonic jerks and was misdiagnosed with epilepsia partialis continua. RESULTS: The perioral myoclonia were associated with brief lapses of consciousness and with a generalized EEG pattern as shown by the synchronous video/EEG investigation with polygraphic recordings. The patient was diagnosed as having the syndrome of perioral myoclonia with absences described by C.P. Panayiotopoulos, C.D. Ferrie, S.E. Giannakodimos, and R.O. Robinson (in: Wolf P, editor. Epileptic seizures and syndromes. London: John Libbey; 1994, p. 143-53). CONCLUSION: We emphasize that this rare and peculiar seizure type associated with generalized epilepsy can be misdiagnosed as focal epilepsy.     

Juvenile Myoclonic Epilepsy: Factors of Error Involved in the Diagnosis and Treatment

Juvenile myoclonic epilepsy (JME), a common form of idiopathic generalized epilepsy, has a distinct clinical and electroencephalographic profile. Often JME is not recognized, with serious consequences on the sufferers. We examined factors contributing to the missed diagnosis even in an epilepsy clinic. Of 70 JME patients, 66 (91.4%) were not diagnosed on referral and 22 (33%) were not initially recognized in the epilepsy clinic. The correct diagnosis was established after a mean of 8.3 +/- 5.5 years from disease onset and an interval of 17.7 +/- 10.4 months from first evaluation in the epilepsy clinic. Myoclonic jerks, the hallmark of the disease, were not usually reported by patients. Similarly, relevant questioning may not be included in the history. Absence seizures antedating jerks by many years, myoclonic jerks reported as unilateral, generalized tonic-clonic seizures occurring during sleep and focal EEG abnormalities are other factors contributing to not recognizing JME. Our study reemphasizes the need to have not only a correct seizure diagnosis but also a correct epilepsy-disease diagnosis.     

Overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy.

Eyelid myoclonia with absences (EMA) and juvenile myoclonic epilepsy (JME) are two separate epileptic syndromes included in the new classification of epilepsies and epileptic syndromes by ILAE in 2001. Both are idiopathic generalized epilepsies with their clinical onset in the first two decades. EMA is characterized by eyelid myoclonia associated with absences and photosensitivity. Self-induced seizures are frequently seen in EMA. It can be associated with mildly mental retardation and resistance to treatment. JME includes three types of generalized seizures: typical absences, myoclonic jerks and generalized tonic-clonic seizures. The myoclonic jerks occur almost exclusively on awakening, involve preferently the upper extremities, may rarely affect the lower extremities or the entire body. More severe attacks may be accompanied by a fall. The myoclonic jerks occur rarely in EMA. They are usually mild and are freqently restricted to the upper extremities. Generalized tonic-clonic seizures, photosensitivity and generalized polyspike-wave discharges provoked by eye closure are features of both epileptic syndromes. In this study, we describe four female patients with eyelid myoclonia associated with absences, myoclonic jerks causing falling down and rare generalized tonic-clonic seizures. All patients had good school performance and total seizure control under sodium valproate treatment. Their EEGs show generalized polyspike-wave discharges with a frequency of 3.5-6Hz always appearing a few seconds after eye closure and photoparoxysmal response. These patients show the characterictics of both epileptic syndromes. It is clinically important to make a syndromic diagnosis for an optimum advise on treatment, lifestyle restrictions and prognosis. In this study, we have gathered evidence that EMA and JME are dynamic syndromes that tend to evolve into one another.     

Eye closure sensitivity and epileptic syndromes: A retrospective study of 26 adult cases.

PURPOSE: The transient, mainly generalized, together with brief changes in EEG baseline immediately after eye closure, is called 'eye closure sensitivity' (ECS) which was first reported by Robinson in 1930 and there have been limited number of studies investigating ECS and epilepsy syndromes. Therefore, we aimed to reveal the possible relationship between ECS and the epilepsy syndromes in our adult patients. PATIENTS AND METHODS: Adult patients monitored in Hacettepe University Hospitals EEG Laboratory, from January 1995 to December 2005, were screened retrospectively for the presence of ECS. During EEG recording, all patients were asked to open their eyes for at least for 10s and close their eyes at the end of this period in six different montages. Hyperventilation and photic stimulation were performed according to the standard protocol of IPS. RESULTS: Twenty-six patients have had ECS during EEG recording. Nineteen (73%) were women, and mean age of the patients was 24 years. The mean ages were 12.3+/-5.4 years for seizure onset and 18.5+/-4.9 years for initial detection of ECS. Eleven had a history of febrile seizures. There was a family history for epilepsy in five patients. Photosensitivity in their EEG was noticed in 11 patients. ECS was established in five epilepsy syndromes: eyelid myoclonia with absences (EMA); (n: 6), juvenile myoclonic epilepsy (JME); (n: 6), idiopathic generalized epilepsy (IGE with tonic clonic seizure); (n: 4), juvenile absence epilepsy (JAE); (n: 1) and idiopathic occipital lobe epilepsy (IOE) (n: 9). All patients were seizure free with or without anti-epileptic medication during follow up. CONCLUSION: ECS is more common in females. It may overlap with photosensitivity but be independent from photosensitivity. It may be seen in different epilepsy syndromes including IOE which was not reported previously.     

Épilepsies généralisées idiopathiques chez le sujet âgé : le point de vue du gériatre

Introduction

Long-term follow-up studies indicate a low remission rate in idiopathic generalised epilepsies (IGE) (Martinez-Juarez et al., 2006), suggesting they may persist to an advanced age. However there are few estimates of IGE frequency in the elderly.

Methods

EEGs of 700 patients aged over 70 years, recorded between January 2006 and March 2007, were reviewed for anomalies consistent with IGE. We then examined the clinical history of patients with these anomalies.

Results

A persistent IGE was identified in four female patients (mean age: 79 years); in two cases it was a juvenile myoclonic epilepsy (JME) and in two an epilepsy with grand mal seizures. Seizures in three patients had begun in childhood or adolescence and in one at 40 years. Before hospitalization, few or no seizures were reported and IGE had not been diagnosed. IGE was revealed in each patient by a relatively severe event: an absence status (AS), subcontinuous myoclonic seizures or repeated convulsive generalised seizures (CGS). These events were not situation-related but in one patient the relapse of simple convulsive seizures, may have been related to the withdrawal of anti-epileptic drugs (AED) several months previously. EEG records showed generalised spikes or polyspikes and waves organised in a status epilepticus or in interictal rhythmic discharges. In one case they were evident only from a 24 hours recording. Clonazepam injection was used to suppress the AS episode and the subintrant myoclonia. After the AS, interictal generalised epileptic discharges persisted. Two of the four patients had familial history of epilepsy or febrile seizures but in no case was an epileptogenic lesion evident in brain CT scan or MRI. Clinical exams and biologic parameters were normal. All of the patients had worked and were married with children. Appropriate therapies were followed after the diagnosis of IGE. One patient with JME had been treated by Valproate which was discontinued by the general practitioner because of lethargy and replaced by Carbamazepine; seizures were aggravated under both Carbamazepine and then Lamotrigine and until the patient became seizure-free on Levetiracetam. The antiepiletic treatment was also modified in a second patient, while the two others responded well to Valproate.

Conclusions

IGE can exacerbate in the elderly, as different types of seizures including AS, subintrant myoclonia or repeated CGS. Our data suggest persistent IGE are quite frequent in an aged population and may be underestimated due to difficulties in diagnosis. Correctly diagnosed, adjustment of AED may offer substantial clinical improvements in IGE of the elderly.     

Eye closure related spike and wave discharges: clinical and syndromic associations.

Precipitation of spike and wave (SW) discharges in some epileptic patients by eye closure (EC) has rarely been reported. To disclose the clinical characteristics and classification of syndromes of epileptic patients with SW discharges induced by EC, we investigated 10 patients (1 M, 9 F) showing this peculiar EEG feature. The patients aged between 9-39 years (mean 20.6 +/- 9.058), underwent short-term (1-3.5 hr) video-EEG investigations in order to document the appearance of the SW discharges within 3 seconds of the act of EC, in at least two occasions. Clinical analysis showed that 5 female patients who had the syndrome of juvenile myoclonic epilepsy (JME) had a later onset of epilepsy (13-15 years) than the 3 patients (3 girls) with eyelid myoclonia with absences (EMA) (3-8 years of age at onset). The remaining 2 patients who were diagnosed as childhood absence epilepsy (CAE) and juvenile absence epilepsy (JAE) according to the international classification, did not show photosensitivity on the video-EEG. All but one of the 5 JME patients had experienced myoclonic seizures in intermittent photic stimulation (IPS) at the time of EC, associated with multiple spike and wave discharges. Two of the 3 EMA patients exhibited typical absences with eyelid myoclonia during the act of EC. The high rate of family history of epilepsy in first degree relatives of our patients was an outstanding feature, which could have future implications in research of the genetic basis of epilepsy patients with ECS.     

Prevalence and characteristics of visual aura in idiopathic generalized epilepsy

Some patients with idiopathic/genetic generalized epilepsy (IGE) experience visual aura, which can confuse the diagnosis. We sought to determine the frequency and characteristics of visual auras in IGE patients. Among the 176 IGE patients, 4 men and 7 women reported visual auras (mean age — 24 years). Syndromic diagnoses were juvenile myoclonic epilepsy in four, eyelid myoclonia with absences (EMA) in three, juvenile absence epilepsy in three, and other in one. Visual auras consisted of flashing lights, macropsia, illusional movements, and blindness. Eyelid myoclonia with absences was significantly more common in the group with visual aura (3 of 11 patients vs. 8 of 165 IGE patients; P = 0.02). Furthermore, photosensitivity was found significantly more common in IGE patients with visual aura (90% vs 46% of the total IGE patients) (P = 0.004). In conclusion, the visual auras do not exclude a diagnosis of IGE. The presence of visual aura in the EMA syndrome is also remarkable.     

The Seizure Prognosis of Juvenile Myoclonic Epilepsy

Abstract: Thirty-two patients with juvenile myoclonic epilepsy (JME) were studied to evaluate the seizure prognosis. The response to antiepileptic drugs ww excellent in 68%, but the patients, who had much more focal discharges on EEG and were sensitive to neuropsychological EEG activations at the beginning of treatment, had an unfavorable outcome. A combination of absence seizure alone resulted in the excellent prognosis for both absence and myoclonic seizures, and a combination of generalized tonic-clonic seizure on awakening related to rare myoclonic seizures. These findings suggest that the outcome of JME would be predicted by the EEG abnormality and the combination of the other types of seizures, which are probably determined by the pathophysiology at the beginning of treatment.     

Predictors of seizure control in patients with juvenile myoclonic epilepsy (JME)

PurposeJuvenile myoclonic epilepsy (JME) is a widely accepted epilepsy syndrome. Factors that are potentially predictive for seizure outcome in JME are not entirely clear yet. In the current study, we tried to identify factors that are potentially predictive for seizure outcome in patients with JME.MethodIn this case–control study all patients with a clinical diagnosis of JME were recruited at the outpatient epilepsy clinic at Shiraz University of Medical Sciences from 2008 to 2012. All patients were followed for at least 18 months. We divided the patients into two groups: patients who were seizure free in the last 12 months of their follow-up period and those who had any seizures (i.e., generalized tonic-clonic (GTC), myoclonic or absences).Results116 patients were studied. Sixty-eight patients were seizure free in the last 12 months of their follow-up and 48 patients had at least one seizure of any type. Shorter follow-up period, drugs other than valproate in the drug regimen, and poor drug adherence were significantly more frequent among those who were not seizure free.ConclusionA correct diagnosis of JME does not guarantee an optimal response to therapy. Poorer drug adherence might result in more seizures; this should be highlighted for patients in every single visit. Longer follow-up gives the treating physician more time to adjust the drug(s) and formulate a plan that is appropriate for patients with difficult to treat seizures. We recommend valproate if seizure control is the main objective.     

Idiopathic generalised epilepsy of adult onset: clinical syndromes and genetics

OBJECTIVE: To study the clinical features and genetics of idiopathic generalised epilepsy (IGE) beginning in adult life. METHODS: Consecutive patients with IGE, defined as generalised seizures with spike or polyspike and wave on EEG, were studied in the setting of a first seizure clinic where an early postictal EEG record is part of the protocol. Patients were divided into two groups: "classical IGE" with onset before 20 years and inclusive of all the IGE subsyndromes recognised by the international classification; and "adult onset IGE", when seizure onset was at age 20 years or later. Seizure patterns, clinical features, and genetics of the adult onset group were examined. RESULTS: Of 121 patients with an electro-clinical diagnosis of IGE, 34 (28%) were diagnosed as adult onset IGE. The seizure patterns in these 34 cases were tonic-clonic seizures + absences (3), tonic-clonic seizures + myoclonus (6), and tonic-clonic seizures alone (25). Tonic-clonic seizures were often precipitated by alcohol or sleep deprivation. The proportion of affected first and second degree relatives did not differ between the classical and adult onset IGE groups. Twenty adult onset cases were treated with sodium valproate, four with other antiepileptic drugs, and 10 were untreated. Follow up of 32 of the 34 cases (for 31 (22) months (mean (SD)) showed that tonic-clonic seizures recurred in eight patients: five with identified provocative factors and three without. CONCLUSIONS: Adult onset IGE is a relatively frequent and benign disorder. Seizures are usually provoked and are easy to control. Patients in this age group may often be misdiagnosed as having non-lesional partial epilepsy. Early postictal EEG and sleep deprivation studies may improve the detection of these patients. Pedigree analysis suggests that adult onset IGE, like classical IGE, has a genetic aetiology.