Seizure prognosis and EEG evolution in complex partial seizures of childhood onset

We studied the clinical course and seizure prognosis of 126 children with complex partial seizures regularly followed up for more than 4 years in our clinic. Clinical and EEG features of 63 seizure-free patients were compared with those of 63 patients with persistent seizures. The features contributing to poor prognosis were 1) mental retardation, 2) a history of status epilepticus and 3) abnormal basic rhythm in EEG. CT abnormality, a history of febrile convulsions (FC), the clustering of seizures and association with other types of seizures did not influence prognosis. We divided the patients into four groups according to the evolutionary pattern of seizure discharges: Group A, 55 (43.7%) patients with spike focus always fixed in the same region; Group B, 20 (15.9%) patients with wandering foci; Group C, 10 (7.4%) patients with multifocal spikes; and group D, 41 (32.5%) patients with no focal discharges. There was no difference in seizure prognosis among these four groups, but the patients with a focus in the anterior temporal region in Group A evidenced the worst prognosis.     

Magnetoencephalography localizing spike sources of atypical benign partial epilepsy

Rationale: Atypical benign partial epilepsy (ABPE) is characterized by centro-temporal electroencephalography (EEG) spikes, continuous spike and waves during sleep (CSWS), and multiple seizure types including epileptic negative myoclonus (ENM), but not tonic seizures. This study evaluated the localization of magnetoencephalography (MEG) spike sources (MEGSSs) to investigate the clinical features and mechanism underlying ABPE. Methods: We retrospectively analyzed seizure profiles, scalp video EEG (VEEG) and MEG in ABPE patients. Results: Eighteen ABPE patients were identified (nine girls and nine boys). Seizure onset ranged from 1.3 to 8.8 years (median, 2.9 years). Initial seizures consisted of focal motor seizures (15 patients) and absences/atypical absences (3). Seventeen patients had multiple seizure types including drop attacks (16), focal motor seizures (16), ENM (14), absences/atypical absences (11) and focal myoclonic seizures (10). VEEG showed centro-temporal spikes and CSWS in all patients. Magnetic resonance imaging (MRI) was reported as normal in all patients. MEGSSs were localized over the following regions: both Rolandic and sylvian (8), peri-sylvian (5), peri-Rolandic (4), parieto-occipital (1), bilateral (10) and unilateral (8). All patients were on more than two antiepileptic medications. ENM and absences/atypical absences were controlled in 14 patients treated with adjunctive ethosuximide. Conclusion: MEG localized the source of centro-temporal spikes and CSWS in the Rolandic-sylvian regions. Centro-temporal spikes, Rolandic-sylvian spike sources and focal motor seizures are evidence that ABPE presents with Rolandic-sylvian onset seizures. ABPE is therefore a unique, age-related and localization-related epilepsy with a Rolandic-sylvian epileptic focus plus possible thalamo-cortical epileptic networks in the developing brain of children.     

Five pediatric cases of ictal fear with variable outcomes

Purpose: Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. Subjects and methods: We identified five pediatric patients with ictal fear who were followed up on at Okayama University Hospital between January 2003 and December 2012. We retrospectively reviewed their clinical records and EEG findings. Results: The onset age of epilepsy ranged from 8 months to 9 years and 10 months. The common ictal symptoms were sudden fright, clinging to someone nearby, and subsequent impairment of consciousness, which were often accompanied by complex visual hallucinations and psychosis-like complaints. Ictal fear, in four patients, was perceived as a nonepileptic disorder by their parents. Ictal electroencephalograms (EEG) of ictal fear were obtained in all patients. Three showed frontal onset, while the other two showed centrotemporal or occipital onsets. Two patients were seizure free at last follow-up, while seizures persisted in the other three. A patient with seizure onset during infancy had a favorable outcome, which was considered to be compatible with benign partial epilepsy with affective symptoms. Conclusion: Ictal fear is not always associated with a symptomatic cause or a poor seizure outcome. It is quite important to make a correct diagnosis of ictal fear as early as possible to optimize treatment.     

Risk for developing epilepsy and epileptiform discharges on EEG in patients with febrile seizures

Purpose: The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EEG changes on follow-up examination. Methods: This study consisted of 36 children who presented to our hospital with febrile seizures and whose electroencephalograms (EEG) showed epileptiform discharges. The development of epilepsy and the recurrence of febrile seizures were compared between the study group (n = 36) and the control group (n = 87), which included children with febrile seizure but with normal EEG findings. Results: No significant correlation was detected between the recurrence rate of febrile seizures in patients with normal EEG (23 out of 87, 26.4%) findings and that of patients whose EEGs showed epileptiform discharges (12 out of 36, 33.3%) [adjusted OR 0.67 (0.26–1.68)]. However, 9 (25.0%) out of 36 patients with epileptiform discharges on EEG had epilepsy compared to 2 patients (2.3%) in the control group. The correlation was statistically significant [crude OR 10.88 (2.47–47.88) and adjusted OR 8.75 (1.49–51.6)]. Conclusion: Epileptiform discharges on the EEGs of patients with febrile seizures are important predictive risk factors of the development of epilepsy.     

A long-term,clinical study on symptomatic infantile spasms with focal features

Background: We studied the clinical, neuroradiological and EEG characteristics of patients with infantile spasms (IS) who showed focal features to reveal their long-term prognoses and treatment responses. Subjects and methods: Subjects included 69 patients with IS who consecutively visited our hospital. We tentatively classified the subjects into focal IS (fIS) and diffuse WS (dIS) groups based on the presence and absence of more than two of the following findings, respectively: (1) epileptic spasms (ES) that were asymmetric, (2) a focal epileptic EEG abnormality, (3) a lateralized neurological abnormality, (4) a focal brain MRI and (5) a focal SPECT abnormality. Results: We found 23 cases with fIS and 46 cases with dIS. ES responded more frequently in fIS than dIS group (100% vs. 80%; P = 0.02) to the initial ACTH trial although the subsequent seizure relapse occurred more frequently in fIS than dIS group (74% vs. 38%; P = 0.0006). The second course of ACTH trial brought a short as well as long-term remission in both groups (6/8 cases vs. 5/6 cases). Later in the clinical course, the fIS patients tended to display a focal epileptic EEG abnormality and to develop focal seizures. In our series, approximately one-third of patients with fIS later showed either only a focal epileptic EEG abnormality, a focal epileptic EEG abnormality with focal seizures, or bilateral asymmetric EEG foci with disabling seizures, respectively. Conclusion: It is useful to classify patients with IS into fIS and dIS groups based on various lateralizing signs because the classification provides practical information regarding the long-term outcome and treatment strategy.     

Neurophysiologic findings of neuronal migration disorders: intrinsic epileptogenicity of focal cortical dysplasia on electroencephalography, electrocorticography, and magnetoencephalography

We define specific neurophysiologic characteristics for focal cortical dysplasia, a neuronal migration disorder. We reviewed data from published reports and our patients with focal cortical dysplasia. Our patients underwent preoperative scalp video-electroencephalography (EEG), magnetic resonance imaging (MRI), magnetoencephalography, and intraoperative or extraoperative electrocorticography monitoring. Scalp EEG showed trains of rhythmic epileptiform spike or sharp waves. Positive spikes correlated with early seizure onset, MRI lesion around the rolandic fissure, hemiparesis, and a less favorable outcome. Interictal electrocorticography showed continuous epileptogenic discharges: repetitive electrographic seizures and bursting discharges or continuous or quasicontinuous rhythmic spiking. Ictal electrocorticography showed paroxysmal fast and/or repetitive spiking. Magnetoencephalography showed clustered spike sources within and extending from the lesion. Cortical stimulation gave more frequent, lower-threshold afterdischarges and higher-threshold primary motor function. Focal cortical dysplasias are highly and intrinsically epileptogenic. For surgical seizure control, EEG, electrocorticography, and magnetoencephalography must delineate the intrinsic epileptogenic zone within and extending from the focal cortical dysplasia identified by MRI.     

Long-Term Prognosis of the Lennox-Gastaut Syndrome

Abstract: A long-term follow-up study of 89 patients of Lennox-Gastaut syndrome (LGS) disclosed the persistent occurrence of seizures in 68 patients (76.4%) and severe mental defect in 48 (53.9%). An analysis of the correlation between the mental and seizure prognoses confirmed that the persistence of minor seizures could result in mental deterioration. An examination of the evolutional changes in EEG demonstrated that diffuse slow spike-waves characteristic of LGS gradually disappeared, while focal epileptic discharges, especially multifocal spikes, appeared in spite of the persistence of minor seizures. The diagnostic criteria were satisfied in only 31 (47.0%) of 66 patients with the persistence of minor seizures. Patients with multiple independent spike foci and minor seizures were considered to belong to a specific type of epilepsy, namely the severe epilepsy with multiple independent spike foci (the severe epilepsy with MISF). The seizure and mental prognoses were poorer in patients who evolved into the severe epilepsy with MISF than others.     

Seizure control in patients with idiopathic generalized epilepsies: EEG determinants of medication response

In a minority of patients with idiopathic generalized epilepsies (IGEs), seizures continue despite appropriate treatment. We sought to determine the clinical and EEG factors associated with medication response in these patients. All patients with IGEs evaluated by epilepsy specialists between 17 November 2008 and 16 November 2009 were included. We collected information on seizure freedom (dependent variable), EEG asymmetries, response to valproic acid (VPA), MRI characteristics, medication use, demographics, and seizure history (predictors). We identified 322 patients with IGEs; 45 (14%) were excluded from analyses because they had always had a normal EEG (N = 26), there were no EEG data (N = 3), or they were non-compliant with medication (N = 26). Patients with juvenile myoclonic epilepsy were more likely to respond to VPA than were patients with other IGEs, and VPA response was associated with seizure freedom. When EEG characteristics were considered, presence of any focal EEG abnormalities (focal slowing, focal epileptiform discharges, or both) was associated with decreased odds of seizure freedom. These findings suggest that patients with IGEs with poor seizure control may have atypical IGEs with possibly focal, for example, frontal, rather than thalamic onset.     

Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome.

Purpose: The aim of this study is to elucidate the clinical and neurophysiological characteristics of the myoclonic, myoclonic-astatic, or astatic seizures in patients with myoclonic-astatic epilepsy (MAE) of early childhood, and to discuss on the nosology of this unique epileptic syndrome.Subjects: The subjects included 30 patients, who fulfilled the following modified International League Against Epilepsy (ILAE) criteria for MAE, and whose main seizures were captured by video-electroencephalographs (EEG) or polygraphs. The modified ILAE criteria includes: (1) normal development before onset of epilepsy and absence of organic cerebral abnormalities; (2) onset of myoclonic, myoclonic-astatic or astatic seizures between 7 months and 6 years of age; (3) presence of generalized spike- or polyspike-wave EEG discharges at 2-3 Hz, without focal spike discharges; and (4) exclusion of severe and benign myoclonic epilepsy (SME, BME) in infants and cryptogenic Lennox-Gastaut syndrome based on the ILAE definitions.Results: The seizures were investigated precisely by video-EEG (n=5), polygraph (n=2), and video-polygraph (n=23), which identified myoclonic seizures in 16 cases (myoclonic group), atonic seizures, with or without preceding minor myoclonus, in 11 cases (atonic group), and myoclonic-atonic seizures in three cases. All patients had a history of drop attacks, apart from ten patients with myoclonic seizures. Myoclonic seizures, involving mainly the axial muscles were classified into those with mild intensity not sufficient to cause the patients to fall (n=10) and those that are stronger and sufficient to cause astatic falling due to flexion of the waist or extension of the trunk (n=6). Patients in the atonic group fell straight downward, landed on their buttocks, and recovered immediately. Analysis of the ictal EEGs showed that all attacks corresponded to the generalized spike or polyspikes-and-wave complexes. In the atonic form, the spike-and-wave morphology was characterized by a positive-negative-deep-positive wave followed by a large negative slow wave. In two patients, the intensity of the atonia appeared to correspond to the depth of the positive component of the spike-and-wave complexes. We did not detect any significant differences in the clinical and EEG features and prognosis, between the atonic and myoclonic groups.Conclusions: Although the determination of exact seizure type is a prerequisite for diagnosing an epileptic syndrome, the strict differentiation of seizure type into either a myoclonic or atonic form, does not appear to have a significant impact on the outcome or in delineating this unique epileptic syndrome. At present, we consider it better to follow the current International Classification of Epileptic Syndromes and Epilepsies until a more appropriate system than the clinico-electrical approach for classifying patients with MAE is available.     

EEG patterns at the time of focal seizure onset.

We studied the electroencephalographic pattern at the time of focal seizure onset in 41 patients. Progressive rhythmic EEG activity was characteristic of spontaneous focal seizures in man. Focal hypersynchrony was present in 49% of cases and served as an accurate localizing indication of cortical irritability. Interictal sharp or spike discharges were absent in 34% of cases. When present, spike and sharp discharges characteristically attentuate at the onset of rhythmic ictal activity. Recognition of the pattern of rhythmic ictal transformation is often essential for the electroencephalographic diagnosis of focal seizures.     

Clinical features of epilepsy with pervasive developmental disorder

Purpose

To clarify the clinical features of patients with epilepsy and pervasive developmental disorder (PDD). Methods: We examined 12 outpatients with epilepsy as well as PDD at Seiai Rehabilitation Hospital. Results: The patients comprised 7 males and 5 females. The initial neurological symptoms appeared between 5 months and 4 years of age. The interval between the initial neurological symptoms/developmental delay and seizure onset ranged from several months to twenty years. The seizures started at 10–19 years of age in 8 out of the 12 cases. The types of seizures were astatic-drop in 2 cases, tonic-to-astatic in one, atypical absence (decreased consciousness) and generalized tonic clonic seizures (GTCS) in 3 cases, GTCS in 4 cases, or myoclonic and psychomotor in 2 cases. The mental development distributed from normal to extremely severe retardation. Paroxysmal abnormalities on eegs were focal at the frontal area in 7 cases (58%) and other findings in 5 cases. Presumptive risk factors were prenatal in 6 cases (family history for PDD in 1 case, for epilepsy in 1, twin pregnancy in 2 cases, and other in 2 cases), perinatal in 2 patients, postnatal in 1, and unknown in 3 cases. Conclusions: The seizures occurred most frequently after the onset of neurological symptoms or developmental delay. The frontal lobe dysfunction was associated with seizure onset in 58% of the cases based on the EEG findings. The risk factors were prenatal in 50% of the cases.     

Intracranially recorded interictal spikes: Relation to seizure onset area and effect of medication and time of day

Objective

The relationship between seizures and interictal spikes remains undetermined. We analyzed intracranial EEG (icEEG) recordings to examine the relationship between the seizure onset area and interictal spikes.

Methods

80 unselected patients were placed into 5 temporal, 4 extratemporal, and one unlocalized groups based on the location of the seizure onset area. We studied 4-h icEEG epochs, removed from seizures, from day-time and night-time during both on- and off-medication periods. Spikes were detected automatically from electrode contacts sampling the hemisphere ipsilateral to the seizure onset area.

Results

There was a widespread occurrence of spikes over the hemisphere ipsilateral to the seizure onset area. The spatial distributions of spike rates for the different patient groups were different (p < 0.0001, chi-square test). The area with the highest spike rate coincided with the seizure onset area only in half of the patients.

Conclusion

The spatial distribution of spike rates is strongly associated with the location of the seizure onset area, suggesting the presence of a distributed spike generation network, which is related to the seizure onset area.

Significance

The spatial distribution of spike rates, but not the area with the highest spike rate, may hold value for the localization of the seizure onset area.     

Early clinical features and diagnosis of Dravet syndrome in 138 Chinese patients with SCN1A mutations

Objective: To summarize the early clinical features of Dravet syndrome (DS) patients with SCN1A gene mutations before the age of one. Methods: SCN1A gene mutation screening was performed by PCR–DNA sequencing and multiple ligation-dependent probe amplication (MLPA). The early clinical features of DS patients with SCN1A mutations were reviewed with attention to the seizures induced by fever and other precipitating factors before the first year of life. Results: The clinical data of 138 DS patients with SCN1A gene mutations were reviewed. The median seizure onset age was 5.3 months. Ninety-nine patients (71.7%) experienced seizures with duration more than 15 min in the first year of life. Two or more seizures induced by fever within 24 h or the same febrile illness were observed in 93 patients (67.4%). 111 patients (80.4%) had hemi-clonic and (or) focal seizures. Seizures had been triggered by fever of low degree (T < 38 °C) in 62.3% (86/138) before the first year of life. Vaccine-related seizures were observed in 34.8% (48/138). Seizures in 22.5% (31/138) of patients were triggered by hot bath. Carbamazepine, oxcarbazepine, lamotrigine, phenobarbital and phenytoin showed either no effect or exacerbating the seizures in our group. Conclusion: The seizure onset age in DS patients was earlier than that was in common febrile seizures. When a baby exhibits two or more features of complex febrile seizures in the first year of life, a diagnosis of DS should be considered, and SCN1A gene mutation screening should be performed as early as possible. Early diagnosis of DS will help clinicians more effectively prescribe antiepileptic drugs for stronger prognosis.     

Childhood absence epilepsy: Elctroclinical features and diagnostic criteria

Objective: To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. Methods: The video-electroencephalogram (VEEG) database in our hospital was searched using “absence seizures” and “3-Hz generalized spike and waves (GSW)” as key-words. Other epileptic syndromes with typical absence seizures were carefully excluded. Children meeting the CAE diagnostic criteria of the International League Against Epilepsy (ILAE) in 1989 were further evaluated with the diagnostic criteria proposed by Panayiotopoulos in 2005. Results: Totally 37 children met the 1989 ILAE criteria of CAE. The onset age of absence seizures ranged from 3 to 11 years. All patients had frequent absence seizures (5-60 times per day). Two patients (5.4%) had generalized tonic-clonic seizures. Hyperventilation induced absences in all patients. VEEG confirmed that 7 patients (18.9%) had only simple absences, 25 patients (67.6%) had only complex absences, and 5 patients (13.5%) had both simple and complex absences. Ictal EEG showed 3 Hz GSW discharges in all patients. The seizure duration ranged from 3 to 40 s. Four patients (10.8%) had two spikes per wave in ictal EEG. GSW fragments were found in 29 patients (78.4%) during sleep. Interictal polyspikes and waves were present in 17 patients (45.9%). Focal discharges predominantly in the anterior regions, were found in 22 patients (56.8%). Only 7 patients (18.9%) met the diagnostic criteria proposed by Panayiotopoulos in 2005. Conclusions: Few patients meeting the 1989 ILAE diagnostic criteria for CAE meet the new diagnostic criteria proposed by Panayiotopoulos in 2005. The new criteria for CAE are too strict to appropriately classify some patients.     

Absence seizures in the first 3 years of life: an electroclinical study of 46 cases

Purpose: Early onset absence seizures have been considered a rare heterogeneous group with a poor prognosis. Only few patients may be categorized into well‐known syndromes. We have evaluated electroclinical features, evolution, and the nosologic boundaries of early onset absence seizures. Methods: Forty‐six neurologically normal patients with absence seizures associated with bilateral, synchronic, or asynchronic, and symmetric or asymmetric spike‐and‐wave paroxysms with onset in the first 3 years of life were included. Patients with abnormal neurologic examination and brain imaging were excluded from the study. Key Findings: In our study, 39 patients met the clinical and electroencephalography (EEG) criteria of well‐defined epileptic syndromes. Childhood absence epilepsy was found in 11 patients, benign myoclonic epilepsy in infancy in 18 patients, eyelid myoclonic epilepsy in 4, and epilepsy with myoclonic absences in 6. We did not find clinical and EEG criteria of well‐recognized epileptic syndromes in seven children. Nine of 11 patients with simple absence seizures became seizure free. All these patients had normal neurologic and neuropsychological evaluations. Of the 35 patients who had absence seizures associated with myoclonic seizures, 20 became seizure free. Fifteen of 35 children continue having seizures. At the last visit, 20 of these 35 patients had normal neurologic and neuropsychological evaluations, 11 presented with mild mental retardation, and 4 with severe mental retardation. Significance: Epilepsies with absence seizures of early onset are relatively uncommon. Most of the patients had well‐defined epileptic syndromes with a variable evolution. The evolution depended on the epileptic syndromes.     

Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian patients

Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention to the symptoms of onset. All the patients received at least one formal cognitive and behavior evaluation. Epilepsy started at a mean age of 5.7 months; the onset was marked by isolated seizure in 25 infants, and by status epilepticus in 12; the first seizure had been triggered by fever, mostly of low degree in 22 infants; the first EEG was normal in all cases. During the second year of life difficult-to-treat seizures recurred, mostly triggered by fever, hot bath, and intermittent lights and delay in psychomotor development became evident. At the last evaluation, performed at a mean age of 16 ± 6.9 years, mental retardation was present in 33 patients, associated with behavior disorders in 21. Our data indicate that the most striking features of SMEI are: the early onset of seizures in a previously healthy child, the long duration of the first seizure, the presence of focal ictal symptoms, and sensitivity to low-grade fever. Diagnosis of SMEI may be proposed by the end of the first year of life, and a definite diagnosis can be established during the second year based on the peculiar seizure-favoring factors, EEG photosensitivity and psychomotor slowing. The temporal correlation between high seizure frequency and cognitive impairment support the role of epilepsy in the clinical outcome, even if a role of channelopathy cannot be ruled out.     

Generalized onset seizures with focal evolution (GOFE) — A unique seizure type in the setting of generalized epilepsy

PurposeWe report clinical and electrographic features of generalized onset seizures with focal evolution (GOFE) and present arguments for the inclusion of this seizure type in the seizure classification.MethodsThe adult and pediatric Epilepsy Monitoring Unit databases at Vanderbilt Medical Center and Children's Hospital were screened to identify generalized onset seizures with focal evolution. We reviewed medical records for epilepsy characteristics, epilepsy risk factors, MRI abnormalities, neurologic examination, antiepileptic medications before and after diagnosis, and response to medications. We also reviewed ictal and interictal EEG tracings, as well as video-recorded semiology.ResultsTen patients were identified, 7 males and 3 females. All of the patients developed generalized epilepsy in childhood or adolescence (ages 3–15 years). Generalized onset seizures with focal evolution developed years after onset in 9 patients, with a semiology concerning for focal seizures or nonepileptic events. Ictal discharges had a generalized onset on EEG, described as either generalized spike-and-wave and/or polyspike-and-wave discharges, or generalized fast activity. This electrographic activity then evolved to focal rhythmic activity most commonly localized to one temporal or frontal region; five patients had multiple seizures evolving to focal activity in different regions of both hemispheres. The predominant interictal epileptiform activity included generalized spike-and-wave and/or polyspike-and-wave discharges in all patients. Taking into consideration all clinical and EEG data, six patients were classified with genetic (idiopathic) generalized epilepsy, and four were classified with structural/metabolic (symptomatic) generalized epilepsy. All of the patients had modifications to their medications following discharge, with three becoming seizure-free and five responding with > 50% reduction in seizure frequency.ConclusionGeneralized onset seizures may occasionally have focal evolution with semiology suggestive of focal seizures, leading to a misdiagnosis of focal onset. This unique seizure type may occur with genetic as well as structural/metabolic forms of epilepsy. The identification of this seizure type may help clinicians choose appropriate medications, avoiding narrow spectrum agents known to aggravate generalized onset seizures.     

Pretreatment electroencephalographic features in patients with childhood absence epilepsy

ObjectiveTo analyze the ictal and interictal electroencephalographic (EEG) features in newly diagnosed childhood absence epilepsy (CAE) and determine the association between seizure onset topography, interictal focal spike-wave discharges (FSWDs) and accompanying clinical features of absence seizures.MethodsThe authors searched the EEG database for a definite diagnosis of CAE according to ILAE 2017 criteria. Video-EEGs of untreated pediatric patients during sleep and wakefulness were evaluated retrospectively.ResultsThe study included 47 patients (25 males, 22 females). Interictal FSWDs were observed in 49% of patients with CAE during wakefulness and in 85.1% during sleep (p = 0.001). Interictal FSWDs were most frequently observed in the frontal regions (awake: 34%; asleep: 74.5%), followed by the posterior temporoparietooccipital region (awake: 21.2%; asleep: 36.1%), and the centrotemporal region (awake: 6.4%; asleep: 8.5%). Eleven patients (23.4%) had polyspikes during sleep. Both bilateral symmetric and asymmetric seizure onset were noted in 32%, whereas focal seizure onset was observed in 14.9% of the patients. Absence seizures with and without motor components were seen in 72.3% and 61.7% of patients, respectively, and in 33% of patients both occurred. There were no associations between the existence of interictal FSWDs, focal/asymmetric seizure onset, and absence seizures with and/or without motor components.ConclusionAsymmetric and/or focal seizure onset, interictal FSWDs, and absence seizures with motor components are commonly observed in drug-naive CAE. This study found no association between seizure onset topography, interictal FSWDs, and semiological features of absence seizures.     

Epilepsy with myoclonic absences in siblings

Background: Epilepsy with myoclonic absences (EMAs) is a distinct form of childhood epilepsy characterized by a peculiar seizure type that identifies this condition. Purpose: To describe the clinical, electroencephalographic features, treatment strategies and outcome in this first case series of two siblings with normal intelligence presenting with EMAs. Materials and methods: Both siblings underwent video-polygraphic investigations (simultaneous recording of electroencephalogram [EEG] and electromyogram [EMG] from deltoids), high-resolution magnetic resonance imaging (MRI), karyotyping, neuropsychological evaluation and language assessment. Results: Both the children had a mean age of onset of prototype seizures by 3.5 years. Myoclonic absences (MAs) were characterized by rhythmic, bilateral, synchronous, symmetric 3-Hz spike–wave discharges, associated with EMG myoclonic bursts at 3 Hz, superimposed on a progressively increasing tonic muscle contraction. The interictal EEG showed a normal background activity with bursts of generalized spike and waves (SWs) as well as rare focal SWs independently over bilateral temporal and frontal regions. Increase in the seizure frequency from 5 to 100/day was observed due to use of carbamazepine and phenobarbitone which decreased with its withdrawal and introduction of valproate. Though lamotrigine was given as an add on to valproate, it did not benefit them and was therefore replaced by topiramate at 3.5 mg/kg/day which has maintained them on remission at one year follow up. Conclusions: Recognition of this ictal pattern allows identification and differentiation of EMAs from other seizure types. Idiopathic and symptomatic EMAs need to be differentiated from childhood absence epilepsy with myoclonia. MAs are worsened by drugs like carbamazepine while valproate either alone or in combination with topiramate (preferred to lamotrigine) gives excellent outcome.     

Electro-clinical features and magnetic resonance imaging correlates in Menkes disease

Background: Epilepsy is an early and important feature in Menkes disease (MD), an X-linked recessive neurodegenerative disorder of childhood with defect in copper metabolism. There are only few reports on the electro-clinical and magnetic resonance imaging correlates in Menkes disease. The current study describes the electro-clinical features in MD in relation with the structural findings on MRI. Patients and Methods: Six patients from five families were evaluated between 2005 and 2011. Their diagnosis was based on the characteristic morphological features, microscopic evidence of pili torti and low copper and ceruloplasmin levels. All the patients underwent MRI and EEG as part of the evaluation. Results: All patients had classical form of MD with typical morphological features. All but one patient had refractory seizures. Seizure types included multifocal clonic seizures (n = 3), myoclonic jerks (n = 4) and tonic spasms (n = 1). EEG was markedly abnormal in all except in the patient without clinical seizures. While focal epileptiform discharges predominated before six months of age modified hypsarrhythmia was characteristically noted thereafter. MR Imaging revealed abnormalities in all patients, with cerebral atrophy and delayed myelination being the most common observations. Other features noted were subdural effusion (n = 3), leukoencephalopathy (n = 3) and basal ganglia signal changes (n = 1). Follow up imaging in three patients showed resolution of white matter signal intensity changes. Conclusions: Electro-clinical features in Menkes disease are age dependent and evolve sequentially. White matter changes coincided with acute exacerbation of seizures. There was fair correlation between the electro-clinical features and structural findings on MRI.