Generalized Epilepsy Syndromes Research Articles

Generalized epilepsy syndromes and callosal thickness: Differential effects between patients with juvenile myoclonic epilepsy and those with generalized tonic-clonic seizures alone

PurposeThe definition of two well-studied genetic generalized epilepsy syndromes (GGE) − juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures alone (GTCS) − suggests the absence of structural cerebral abnormalities. Nevertheless, there are various reports of such abnormalities (especially in JME), where effects mainly occur within thalamus and mesial prefrontal regions. This raises the question of whether JME is particularly linked to midline structure abnormalities, which may also involve the corpus callosum. MethodWe studied callosal morphology in a well-matched sample of 22 JME patients, 15 GTCS patients, and 42 controls (CTL) for all of whom we obtained T1-weighted data on a 3T MRI scanner. More specifically, we measured callosal thickness at 100 equidistant points across the callosal surface, and subsequently compared the three groups (JME, GTCS, and CTL) against each other. ResultsSignificant differences between JME patients and controls were observed within the callosal genu, anterior midbody, and isthmus, with thinner regions in JME patients. There were no significant differences between GTCS patients and controls, and also not between JME patients and GTCS patients. ConclusionThe present outcomes point to callosal abnormalities in JME patients suggesting an impairment of interhemisperic communication between prefrontal, motor, parietal and temporal cortices. These findings further support the notion that structural aberrations are present and differentiated across GGE syndromes, with significant callosal deviations from normality in JME.

Social cognition in Juvenile Myoclonic Epilepsy

ObjectiveJuvenile Myoclonic Epilepsy (JME) is a common genetic generalized epilepsy syndrome. Several studies have detailed cognitive and imaging abnormalities pointing to frontal lobe dysfunction, as well as disadvantageous behavioral traits and poor social outcome, challenging the commonly held view of JME being a benign disorder. Social cognition is the ability to elaborate mental representations of social interactions and to use them correctly in social contexts, and includes Theory of Mind (ToM), which pertains to the attribution of cognitive and affective mental states to self and others and seems to rely on complex fronto-temporal interactions. ToM has been recently assessed in focal epilepsy syndromes, but little is available for generalized epilepsies.We performed a cross-sectional study to assess social cognition, with an emphasis on ToM, as well as standard cognitive functions in patients with JME. MethodWe recruited twenty JME patients and twenty matched controls. Tests used to assess social cognition and ToM included the Emotion Attribution Task, Strange Stories Task (SST), Faux Pas Task (FPT), Reading the Mind in the Eyes Task and Social Situation Task. Subjects were also assessed via an extensive neuropsychological battery. ResultsPatients exhibited worse performance in the SST and in several scores of the FPT. They also showed widespread cognitive impairment, involving executive functions, psychomotor speed, verbal and visuo-spatial memory. ConclusionsIn addition to cognitive impairment for fronto-temporal tasks, some features of social cognition are also altered in JME. The latter deficit may underlie the poor social outcome previously described for these patients, and might also relate to imaging findings of frontal lobe dysfunction.

Dynamics of sensorimotor cortex activation during absence and myoclonic seizures in a mouse model of juvenile myoclonic epilepsy.

Generalized epilepsy syndromes often confer multiple types of seizures, but it is not known if these seizures activate separate or overlapping brain networks. Recently, we reported that mice with a juvenile myoclonic epilepsy mutation (Gabra1[A322D]) exhibited both absence and myoclonic generalized seizures. Here, we determined the time course of sensorimotor cortex activation and the spatial distribution of spike voltage during these two seizures. We implanted Gabra1+/A322D mice with multiple electroencephalography (EEG) electrodes over bilateral somatosensory cortex barrel fields (S1) and anterior (aM1) and posterior (pM1) motor cortices and recorded absence seizures/spike-wave discharges (SWDs) and myoclonic seizures. We used nonlinear-association analyses and cross-correlation calculations to determine the strength, leading regions, and time delays of cortical coupling from the preictal to ictal states and within the spike and interspike periods. The distribution of spike voltage was also measured in SWDs and myoclonic seizures. EEG connectivity among all electrode pairs increased at the onset of both SWDs and myoclonic seizures. Surprisingly, during spikes of both seizure types, S1 led M1 with similar delay times. Myoclonic seizure spikes started more focally than SWD spikes, with a significant majority appearing first only in S1 electrodes, whereas a substantial fraction of SWD spikes were detected first in S1 and at least one M1 electrode. The absolute voltage of myoclonic seizure spikes was significantly higher than that of SWD spikes, and there was a greater relative voltage over M1 during myoclonic seizure spikes than in the first one to two SWD spikes. The leading sites in S1 and similar delay times suggest both SWDs and myoclonic seizures activate overlapping networks in sensorimotor cortex and thus, therapeutically targeting of this network could potentially treat both seizures. Spike focality, absolute voltage, and voltage distribution provide insight into neuronal activation during these two seizure types.

Study of Some Trace Elements and Electrolytes in Idiopathic Generalized Epilepsy Syndromes

Study of Some Trace Elements and Electrolytes in Idiopathic Generalized Epilepsy Syndromes

Epileptiform K-Complexes and Sleep Spindles: An Underreported Phenomenon in Genetic Generalized Epilepsy.

To study the frequency of epileptiform K-complexes and sleep spindles as well as clinical variables influencing those abnormalities. We prospectively performed 24-hour ambulatory EEGs in a cohort of patients with genetic generalized epilepsy diagnosed and classified according to the International League against Epilepsy criteria. Overlapping of epileptiform discharges with K-complexes and sleep spindles was defined as epileptiform K-complexes and epileptiform sleep spindles. The presence of epileptiform K-complexes and sleep spindles was tabulated for each patient, and frequencies were calculated. We performed multiple regression analysis to study the influence of clinical predictors on the occurrence of epileptiform K-complexes and sleep spindles. The predictor variables tested in the model were seizure-free duration, epilepsy duration, genetic generalized epilepsy syndrome, number of antiepileptic drugs, use of sodium valproate, and use of lamotrigine. A total of 107 patients (37 males and 70 females) were studied. The mean age was 28.5 ± 10.7 years (range, 13-58). Juvenile absence epilepsy was the most common epilepsy syndrome in the cohort (31.8%), followed by generalized epilepsy with tonic-clonic seizures only (26.2%), juvenile myoclonic epilepsy (26.2%), and childhood absence epilepsy (14%). Epileptiform K-complexes and sleep spindles were seen in 65.4% and 10.3% of patients, respectively. None of the clinical variables had any significant impact on the occurrence of epileptiform K-complexes and sleep spindles in our multivariable analysis. Epileptiform K-complexes are common in the sleep EEGs of patients diagnosed with genetic generalized epilepsy. This underreported phenomenon highlights the important association of arousals and epileptiform discharges in genetic generalized epilepsy.

New ways of looking at an old disease: the reimagination of epilepsy.

The last 20 years have witnessed significant advances in the field of epilepsy with a host of new diagnostic descriptions and treatment options for the neurologist. In this month’s journal club, we review 3 papers which together provide a brief glimpse into an evolving innovative approach to epilepsy and also address some common dogmas in the nature and treatment of this common condition. Contemporary classification of the epilepsies has introduced a new vocabulary to communicate between medical staff and patients. In parallel the International League Against Epilepsy (ILAE) has recently proposed a similar redefinition and reclassification of status epilepticus (SE) which is likely to have a significant effect on patient management and is the focus of the first paper reviewed. The second sets out to debunk one of the last held myths in epilepsy: that a generalised epilepsy syndrome (now often recognised to have a genetic cause) does not have associated architectural changes within the cortex. Finally, we examine recent evidence that perampanel may have a role in treating not only focal epilepsies but also in the adjunctive treatment of patients with refractory generalised seizures.

Epilepsy Patients in Bangladesh - The Experience of a Referral Hospital

Purpose: To analyze the socio-demographic and electro-clinical data of Epilepsy patients presenting in the ‘Epilepsy Clinic’ of a referral hospital.
 Method: Epilepsy patients came to this weekly clinic after referral from this hospital OPD, other hospitals and from private practitioners. All the patients were enrolled from November, 2012 to December, 2015. Then clinical diagnosis was established by the chief investigator. Routine EEG was done. MRI was advised in appropriate cases. Finally the clinical findings and investigation reports were correlated.
 Results: Among 331 patients, 63% were male and 37% were female. 86% patients were in the younger age group (0- 29years). 75% patients were suffering from various forms of LRE, 19% from Generalized Epilepsy Syndrome, 2.7% were unclassified and 2.7% had pseudo-seizure. Total 224 EEG could be done. Among them 118 (52.7%) had different types of abnormalities. Among total 158 MRI, 120 (76%) were abnormal. 6.3% patients could not go to school, 3.3% left study and 12.7% patients remain unemployed due to the disease burden.
 Conclusion: This is a hospital based study. In this study LRE comprises 75% of total patients which is relatively higher than other reports. Males were predominating and younger people were affected more with epilepsy. Due to this disease various social problems were occurring regarding study and employment. This result demands community based larger study in our country.
 Bangladesh Journal of Neuroscience 2015; Vol. 31 (2): 83-93

Pharmacological outcomes in juvenile myoclonic epilepsy: Support for sodium valproate

PurposeJuvenile myoclonic epilepsy (JME) is one of the most frequently diagnosed of the idiopathic generalised epilepsy syndromes, but long term outcome data still remain sparse. MethodsA retrospective audit was undertaken in 186 patients (male: n=78; female: n=108) diagnosed with JME at the Epilepsy Unit at the Western Infirmary in Glasgow, Scotland between July 1981 and July 2012. Median age at treatment start was 16 years (range 13–44), with median follow-up of 14 years (range 2–32). ResultsOverall, 171 patients (92%) achieved remission with antiepileptic drug (AED) treatment (median 9.5 years; range 1–31). After discontinuing treatment in 28 patients, only 11 remained seizure-free off medication. Fifteen patients (8%) continued to have seizures despite having tried up to 8 AED regimens: (5 male, 10 female), 7 of whom had psychiatric comorbidities. AEDs most commonly prescribed included sodium valproate (VPA; n=142), lamotrigine (LTG; n=66) and levetiracetam (LEV; n=22). More male patients than female attained remission with their first or second AED schedule (88% versus 56%). More male patients (44%) received VPA than female (31%) overall. Fewer male patients than female received LTG (26% versus 74%) and LEV (22% versus 78%). Of the monotherapies, remission was achieved using VPA (n=74; 52%), LTG (n=21; 32%) and LEV (n=12, 55%). A total of 76 (25%) of AED schedules resulted in intolerable side-effects, including 29 with VPA, 12 with LTG and 4 with LEV. ConclusionOverall, JME showed a high rate of seizure freedom with AED treatment. VPA appeared to be the most effective AED. Women tended to have a worse outcome than men, since they were increasingly less likely to receive VPA. Patients with psychiatric comorbidities also had a poorer prognosis.

Occipital intermittent rhythmical delta activity in a schoolgirl with microcephaly

The clinical significance of occipital intermittent rhythmic delta activity (OIRDA) on the electroencephalogram (EEG) has not been fully established. Over the years, it has been suggested that the interpretation of the OIRDA electroencephalographic pattern may be related to metabolic problems, structural lesions, infections and epilepsy. Recent studies suggested that this pattern occurs almost exclusively in children and is probably of epileptic origin in most case. It has been associated with primary generalized epilepsy syndromes, such as childhood absence. An 8-year-old schoolgirl, attending the 3rd grade, with easy distractibility, inattention, low school performance,and microcephaly is described. EEG was performed awake during hyperventilation revealed occipital intermittent rhythmic delta with a frequency of 3 Hz, bilateral and synchronous, with 2nd and 4th sec of duration. Antiepileptic therapy with valproic acid was begun. After being treated for 8 months, no OIRDA was detected on follow up EEG. The presence of OIRDA activity on EEG in a child should alert us to the presence of absence epilepsy.

LORETA Z-score Neurofeedback in Patients with Medically Refractory Epilepsy

Rationale: Published studies suggest that augmentation of the sensorimotor rhythm (SMR), a commonly-used neurofeedback protocol for patients with epilepsy, can be an effective means of reducing seizure frequency, even in patients with medically-refractory seizures. However, SMR protocols are limited to training a few frequency bands over sensorimotor cortex. Newer neurofeedback technology allows for the selection of multiple frequency bands in multiple head regions for training purposes and thus allows for training of neural networks.Functional MRI studies have shown abnormal connectivity within the default mode network (DMN) in patients with both focal-onset and primary generalized epilepsy syndromes. The DMN has also been shown to have altered activity concurrent with interictalepileptiform discharges. The effectiveness of newer neurofeedback techniques in reducing seizure frequency for patients with medically-refractory seizures has not yet been established. This case series explores the potential effectiveness of using LORETA z-score training within the DMN in reducing seizure frequency in patients with medically-refractory seizures. Methods: The records for all consecutive patients seen in the Neurofeedback Clinic at a single academic medical center over a one year period (n=6) were retrospectively reviewed. All patients had medically-refractory epilepsy and were either not candidates for epilepsy surgery (based on consensus decision of the center’s faculty) or had refused to consider surgery for personal reasons. Data on patient demographics, duration of epilepsy prior to training, seizure types and frequencies, antiepileptic drugs (AEDs), psychiatric and medical comorbidities, imaging results, neurophysiological results, and the duration of neurofeedback training were abstracted and analyzed. Patient-reported seizure frequency was also analyzed. Results: 125 total training sessions were reviewed. Mean patient age was 33 +/- 6.1 years with mean duration of epilepsy prior to training of 17.2 +/- 3.2 years. Five out of six patients had focal onset epilepsy. None of the patients had a structural lesion on MRI that correlated with their seizure focus. Five out of 6 patients had a history of comorbid mood disorder. No patient had ever been seizure free for more than 1 year. Patients had been trained using LORETA z-score training within the DMN for an average of 20.8 +/- 5.2weeks (1-2 sessions per weekfor 20-30 minutes per session) at the time of analysis. Five out of 6 patients trained had a subjective reduction in reported weekly seizure frequency after LORETA z-score neurofeedback training began. Conclusions: In this small case series, DMN training using LORETA z-score neurofeedback techniques resulted in subjective improvement in seizure frequency from reported baseline for five out of the six patients in this series.Larger studies are needed to more definitively assess the effectiveness of these techniques for reducing seizure frequency in patients with medically-refractory seizures who are not, for either medical or personal reasons, candidates for surgical intervention.

Hector Berlioz and his Vesuvius: an analysis of historical evidence from an epileptological perspective.

The epileptologically informed in-depth analysis of auto- and heteroanamnestic historical sources supports the hypothesis that Hector Berlioz (1803-1869) might have suffered from a photosensitive idiopathic generalized epilepsy syndrome with absences, absence status, myoclonic seizures, and bilateral tonic-clonic seizures. The study outlines the possible influence of the composer's probable epilepsy on his literary and musical oeuvre, including the Symphonie fantastique en cinq parties.

Infraslow EEG Changes in Infantile Spasms

Infantile spasms (IS) are a devastating epileptic encephalopathy syndrome of infancy. Analysis of infraslow EEG activity (ISA) has shown potential in the presurgical evaluation of patients with epilepsy and in differentiating between focal and generalized epilepsy syndromes. Infraslow EEG activity analysis may provide insights into the pathophysiology of some difficult-to-treat epilepsy syndromes, such as IS. To our knowledge, there are no published reports describing ISA in patients with IS. The purpose of this study was to describe ictal patterns of ISA in patients with IS and to correlate with clinical data. EEG recordings of all cases of IS in the past 10 years at the Alberta Children's Hospital were reviewed. Inclusion criteria were a technically adequate video EEG recording that captured at least one spasm. For each patient, the first 10 confirmed spasms were examined. Spasms were evaluated for changes in ISA, which were either generalized, lateralized, or absent ISA (g-ISA, l-ISA, or n-ISA, respectively). Results were correlated with treatments, clinical course, and information pertinent to likely etiology of the IS. A total of 77% of spasms were associated with ISA; 57% with g-ISA, 20% l-ISA, and 21% n-ISA. All patients with exclusively g-ISA showed at least a partial response to initial therapy, while this was the case in 66.7% of those with at least some l-ISA and 50% of those with exclusively n-ISA. Other seizure types occurred in 60% of patients with exclusively g-ISA versus 83% with some l-ISA and all patients with exclusively n-ISA. Ictal ISA was observed in the majority of IS. Trends were observed suggesting that the presence of exclusive g-ISA changes may be a positive prognostic factor in IS.

Physical growth, puberty and hormones in adolescents with Nodding Syndrome; a pilot study.

BackgroundNodding syndrome is an epidemic symptomatic generalized epilepsy syndrome of unknown cause in Eastern Africa. Some patients have extreme short stature. We hypothesized that growth failure in nodding syndrome is associated with specific endocrine dysfunctions. In this pilot study, we examined the relationship between serum hormone levels and stature, bone age and sexual development.ResultsWe recruited ten consecutive children, 13 years or older, with World Health Organization defined nodding syndrome and assessed physical growth, bone age, development of secondary sexual characteristics and serum hormone levels. Two children with incomplete results were excluded. Of the eight remaining, two had severe stunting (height for age Z [HAZ] score < -3) and three had moderate stunting (HAZ score between-3 and -2). The bone age was delayed by a median 3(range 0-4) years. Serum growth hormone levels were normal in all eight but the two patients with severe stunting and one with moderate stunting had low levels of Somatomedin C (Insulin like Growth Factor [IGF1]) and/or IGF binding protein 3 (IGFBP3), mediators of growth hormone function. A linear relationship was observed between serum IGF1 level and HAZ score. With the exception of one child, all were either pre-pubertal or in early puberty (Tanner stages 1 and 2) and in the seven, levels of the gonadotrophins (luteinising and follicle stimulating hormone) and the sex hormones (testosterone/oestrogen) were all within pre-pubertal ranges or ranges of early puberty. Thyroid function, prolactin, adrenal, and parathyroid hormone levels were all normal.ConclusionsPatients with nodding syndrome may have dysfunctions in the pituitary growth hormone and pituitary gonadal axes that manifest as stunted growth, delayed bone age and puberty. Studies are required to determine if such endocrine dysfunction is a primary manifestation of the disease or a secondary consequence of chronic ill health and malnutrition and if so, whether targeted interventions can improve outcome.

PT-05 * LENNOX GESTAUT SYNDROME PRESENTING AFTER GLIOMA RESECTION - A CASE REPORT

Lennox–Gestaut Syndrome (LGS) is a malignant generalized epilepsy syndrome characterized by a triad of refractory mixed seizure types, mental retardation, and slow spike-and-wave electrographic patterns (mostly 1.5 -2.5 Hz). Uncommonly, low-grade astrocytomas have been described in association with LGS prior to resection. We describe an 11 year old boy who began having seizures in the first year of life and was eventually diagnosed with a low grade astrocytoma at 3 years of age arising from the right temporal region. Electroencephalogram (EEG) before surgery showed bursts of interictal polyspike discharges, with right-sided partial seizures. Pathology revealed a fibrillary astrocytoma. Partial resection was done and he was medically stable on a low dose of a single medication. Seven to eight months postoperatively there was recurrence of seizures and follow up EEG showed a more generalized pattern with background slowing, interictal generalized polyspike discharges and generalized seizures. Clinically seizures were characterized as atonic, atypical absence and generalized tonic-clonic after surgery. Follow up imaging revealed a nodule of enhancement along the surgical cavity, which has been stable for the past few years. In this case there was evolution from partial to generalized seizures, more specifically into a LGS phenotype. Despite lesionectomy of this patient's focal neuro-oncological lesion, there continued to be an ongoing progression of this patient's abnormal neuronal circuitry. Aggressive management of focal lesions with complete lesion resection, antiepileptic medication and follow-up EEG monitoring remains an important aspect of neuro-oncological management.

Single-cell genetic expression of mutant GABAA receptors causing Human genetic epilepsy alters dendritic spine and GABAergic bouton formation in a mutation-specific manner.

Mutations in genes encoding for GABAA receptor subunits is a well-established cause of genetic generalized epilepsy. GABA neurotransmission is implicated in several developmental processes including neurite outgrowth and synapse formation. Alteration in excitatory/inhibitory synaptic activities plays a critical role in epilepsy, thus here we investigated whether mutations in α1 subunit of GABAA receptor may affect dendritic spine and GABAergic bouton formation. In particular, we examined the effects of three mutations of the GABRA1 gene (D219N, A322D and K353delins18X) that were found in a cohort of French Canadian families with genetic generalized epilepsy. We used a novel single-cell genetic approach, by preparing cortical organotypic cultures from GABRA1flox/flox mice and simultaneously inactivating endogenous GABRA1 and transfecting mutant α1 subunits in single glutamatergic pyramidal cells and basket GABAergic interneurons by biolistic transfection. We found that GABRA1−/− GABAergic cells showed reduced innervation field, which was rescued by co-expressing α1-A322D and α1-WT but not α1-D219N. We further found that the expression of the most severe GABRA1 missense mutation (α1-A322D) induced a striking increase of spine density in pyramidal cells along with an increase in the number of mushroom-like spines. In addition, α1-A322D expression in GABAergic cells slightly increased perisomatic bouton density, whereas other mutations did not alter bouton formation. All together, these results suggest that the effects of different GABAAR mutations on GABAergic bouton and dendritic spine formation are specific to the mutation and cannot be always explained by a simple loss-of-function gene model. The use of single cell genetic manipulation in organotypic cultures may provide a better understanding of the specific and distinct neural circuit alterations caused by different GABAA receptor subunit mutations and will help define the pathophysiology of genetic generalized epilepsy syndromes.

Seizure outcome in 175 patients with juvenile myoclonic epilepsy – A long-term observational study

Juvenile myoclonic epilepsy (JME) is a genetic generalized epilepsy syndrome. Under appropriate antiepileptic drugs (AED) up to 85% of patients become seizure-free, but many may have a relapse after AED withdrawal. We retrospectively studied 242 patients with JME at the Department of Neurology, Medical University Innsbruck, Austria (1975-2006). We analyzed age at seizure onset, age at last follow up, seizure types, photosensitivity, seizure outcome and neuroimaging findings; inclusion criterion was a medical treatment period of >2 years; exclusion criteria were traumatic or infectious brain injury before the onset of JME and/or gross structural pathology on neuroimaging. We identified 175 patients (111 women) with a median age at seizure onset of 15 years, (range 3-46) and a median age at follow-up (FU) of 38 years (range 14-87; median FU 8 years, range 2-38). Fourteen percent showed (24/175) photosensitivity on routine EEG. Seizure outcome: 62% (109/175) were seizure-free of myoclonic seizures (MS), generalized tonic clonic seizures (GTCS) and absence seizures (AS) for >1 year, and 53% (94/175) for >2 years, including 16 patients (9%) without AEDs. Thirty-one percent (54/175) were seizure-free between 2 and 5 years, 15% (26/175) between 6 and 10, and 8% (14/175) >10 years; 38% (66/175) were not seizure-free. Not seizure-free patients had more often MS, AS and GTCS within the first year of epilepsy than those who were seizure-free at last FU (11% vs. 3%, Chi(2)=4.679, df=1, p=0.043). Seizure-free patients had more often MS and GTCS as last seizure types in the year before becoming seizure-free (37% vs. 15%, p=0.003), whereas in not seizure-free group MS only and GTCS only persisted. JME does not always need lifelong treatment, as a substantial minority of patients remain seizure-free without AEDs. AS, MS and GTCS at onset of the disease are indicators of poor long-term seizure control.

Motor co-activation in siblings of patients with juvenile myoclonic epilepsy: an imaging endophenotype?

Juvenile myoclonic epilepsy is a heritable idiopathic generalized epilepsy syndrome, characterized by myoclonic jerks and frequently triggered by cognitive effort. Impairment of frontal lobe cognitive functions has been reported in patients with juvenile myoclonic epilepsy and their unaffected siblings. In a recent functional magnetic resonance imaging study we reported abnormal co-activation of the motor cortex and increased functional connectivity between the motor system and prefrontal cognitive networks during a working memory paradigm, providing an underlying mechanism for cognitively triggered jerks. In this study, we used the same task in 15 unaffected siblings (10 female; age range 18-65 years, median 40) of 11 of those patients with juvenile myoclonic epilepsy (six female; age range 22-54 years, median 35) and compared functional magnetic resonance imaging activations with 20 age- and gender-matched healthy control subjects (12 female; age range 23-46 years, median 30.5). Unaffected siblings showed abnormal primary motor cortex and supplementary motor area co-activation with increasing cognitive load, as well as increased task-related functional connectivity between motor and prefrontal cognitive networks, with a similar pattern to patients (P < 0.001 uncorrected; 20-voxel threshold extent). This finding in unaffected siblings suggests that altered motor system activation and functional connectivity is not medication- or seizure-related, but represents a potential underlying mechanism for impairment of frontal lobe functions in both patients and siblings, and so constitutes an endophenotype of juvenile myoclonic epilepsy.

Myoclonic atonic epilepsy

Myoclonic atonic/astatic epilepsy (MAE), first described well by Doose1 (pronounced dough sah: <http://www.youtube.com/watch?v=hNNiWXV2wF0>), is a generalized electroclinical syndrome with early onset characterized by myoclonic, atonic/astatic, generalized tonic-clonic, and absence seizures (but not tonic seizures) in association with generalized spike-wave (GSW) discharges. Thought to have a genetic component that has proven to be complicated,2 MAE sometimes occurs in children who have otherwise been developing normally and has variable outcome. MAE is typically treated with antiseizure medications that are used for generalized epilepsy syndromes, with perhaps a best response to valproate, felbamate, or the ketogenic diet.3,4

Late-Onset Epilepsy with Status Myoclonicus: A Diagnostic and Management Dilemma

ABSTRACT.Status myoclonicus (myoclonic status epilepticus) has been described in generalized epilepsy syndromes, neurodegenerative disease, infectious or inflammatory neurologic disease, toxic-metabolic states, and following anoxic brain injury. It is extremely uncommon in elderly people. Hence, status myoclonicus can be a challenge to diagnose and manage especially if it is cryptogenic epilepsy (unknown cause). We describe the case of a 77-year-old female who had new-onset uncontrolled seizures despite three antiepileptic drugs. Following concern about nonepileptic events, she was eventually diagnosed by epilepsy monitoring to have status myoclonicus. Her seizures were then controlled with appropriate antiepileptic drug changes.

Neck Myoclonia With Absence Seizures in an Indian Girl

Absence seizures associated with myoclonic phenomena have been associated with 4 seizure types. Recently, a new seizure type of neck myoclonia with absences was described. We present a case of 9-year-old girl who presented with abnormal head shaking and vacant stare for the past 5 months with an ictal electroencephalograph (EEG) record showing 3-Hz spike-and-wave discharges. The seizures were easily controlled with valproate and clobazam. Neck myoclonia with absences might be a new idiopathic generalized epilepsy syndrome in development.