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Purpose: Early acquired lesions are considered to be a risk factor for atypical language lateralization in epilepsy, whereas developmental lesions are not. Hippocampal sclerosis (HS) can be understood as an early, acquired lesion, whereas developmental tumors (DT) are thought to originate in utero. We assessed whether language lateralization differs between these groups of temporal lobe epilepsy patients., Methods: We used 3-Tesla functional MRI (fMRI) to assess 41 patients (16 DT, 25 HS) and 50 controls, performing a noun-verb-generation task. fMRI data were processed by using SPM2. A laterality index (LI) was calculated based on the number of activated voxels in left- and right-sided frontal lobe language areas. Atypical lateralization was considered if the index was < or = 0.2., Results: Patients had a lower LI (0.42 +/- 0.5) than controls (0.6 +/- 0.3; p < or = 0.05), but the LI was not different between DT (0.44 +/- 0.5) and HS patients (0.43 +/- 0.4; p = 0.9). The frequency of atypical lateralization was increased in patients (27%) compared with controls (8%) but was similar in both patient groups (DT, 31%; HS, 24%). HS patients had an earlier onset and longer duration of epilepsy and a higher frequency of significant antecedent events (p < or = 0.05)., Conclusions: Patients with TLE demonstrate a deviation toward atypical language lateralization. However, language lateralization was not different between patients with presumably acquired lesions compared with patients with developmental pathology. This suggests that the nature of the temporal lobe lesion does not influence overall language lateralization.

Purpose: To evaluate the efficacy and tolerability of levetiracetam (LEV) as either 'de novo' (monotherapy) or 'add-on' therapy in patients with different generalised epilepsies characterised by myoclonic seizures from an observational study., Methods: We evaluated 35 patients (21 female, mean age 24.7 years) with different types of generalised epilepsies (juvenile myoclonic epilepsy (JME), severe myoclonic epilepsy of infancy (SMEI), Lennox-Gastaut syndrome (LGS), myoclonic-astatic epilepsy (MAE), myoclonic absences (MA), benign myoclonic epilepsy in infancy (BMEI) and 4 patients had unspecified epileptic syndromes). Patients received LEV as de novo monotherapy or add-on therapy. Seizure frequency changes and adverse events were observed. Follow-up was conducted for a period of 12 months after treatment., Results: Patients received LEV 2000-3000 mg/day as de novo (n = 8) and as add-on therapy. In total, 29 (82%) of the 35 patients achieved > or = 50% seizure frequency reduction, 15 (42%) patients achieved seizure freedom while a further 14 (40%) patients achieved > or = 50-99% seizure frequency reduction. Six (17%) patients discontinued LEV due to inefficacy or seizure worsening. Not even a single patient discontinued due to adverse effects., Conclusions: Our results confirm that LEV as de novo (monotherapy) and add-on therapy at doses between 2000 and 3000 mg/day effectively reduces myoclonic seizure frequency in patients with generalised epilepsy. LEV was also well-tolerated.

We report on two patients with reflex periodic spasms (PS) triggered by eating. Both patients also had significant cognitive and motor deficits. In both patients, reflex eating PS started during meal and occurred repeatedly at intervals of about 5-30 s, and the whole episode lasted about 10-15 min with 15-20 consecutive PS. Clinically, each PS was characterized by the trunk and head flexion, eyeball elevation, abduction of the upper limbs, and loss of consciousness. Ictal EEG recordings of PS revealed high-voltage sharp slow waves followed by a brief 1-2s voltage attenuation. Simultaneous EMG recording of right and left deltoid muscles revealed an abrupt increase of tone lasting 0.5-1.5s. In two patients, the origins of reflex PS were perirolandic suprasylvian and temporolimbic, respectively, because the first patient had focal epilepsy associated with cortical malformation including bilateral opercular dysplasia and the second one had cryptogenic temporal lobe epilepsy.

Febrile seizures (FS) affect 5-12% of infants and children up to 6 years of age. There is now epidemiological evidence that FS are associated with subsequent afebrile and unprovoked seizures in approximately 7% of patients, which is 10 times more than in the general population. Extensive genetic studies have demonstrated that various loci are responsible for familial FS, and the FEB3 autosomal-dominant locus has been identified on chromosome 2q23-24, where the SCN1A gene is mapped. However, gene mutations causing simple FS have not been found yet. Here we show that the M145T mutation of a well conserved amino acid in the first transmembrane segment of domain I of the human Na(v)1.1 channel alpha-subunit cosegregates in all 12 individuals of a large Italian family affected by simple FS. Functional studies in mammalian cells demonstrate that the mutation causes a 60% reduction of current density and a 10-mV positive shift of the activation curve. Thus, M145T is a loss-of-function mutant. These results show that monogenic FS should also be considered a channelopathy.

Purpose: To clarify the possible role of other factors including the ApoE epsilon4 allele for memory decline in temporal lobe epilepsy (TLE)., Methods: We conducted a neuropsychological and molecular study in 138 consecutive patients (78 female patients; mean age, 50.2 years, SD +/- 17.9; range, 14 to 87 years) with mild nonlesional TLE, who rarely or never had seizures at long-term follow-up. The mean age at seizure onset was 33.0 years (SD, +/-21.7), and the mean duration of epilepsy was 17.1 years (SD, +/-15.7)., Results: Thirty-four (25%) of 138 patients had test scores indicating verbal learning deficit (VLD). The presence of an ApoE epsilon4 allele was associated with an increased risk of VLD (OR, 4.18; 95% CI, 1.66-10.55). The effect of the ApoE genotype was independent of both the age at epilepsy onset and disease duration as well as of a low educational level, which were separately associated with VLD (p values = 0.045, 0.001, and 0.001, respectively). A significant linear trend (p = 0.005) was seen in the relation between disease duration and cognitive impairment, with the highest risk being in patients with an epilepsy duration > or =25.5 years (OR, 7.06; 95% CI, 1.67-29.85), especially if they carried the epsilon4 allele (OR, 32.29; 95% CI, 5.23-195.72)., Conclusions: These results provide evidence for an alteration in cognitive performance as a function of the presence of the ApoE epsilon4 allele and point to the critical role of disease duration itself for cognitive impairment in TLE.

Simultaneously acquired functional magnetic resonance imaging (fMRI) and electroencephalography (EEG) data hold great promise for localizing the spatial source of epileptiform events detected in the EEG trace. Despite a number of studies applying this method, there has been no independent and systematic validation of the approach. The present study uses a nonparametric method to show that interictal discharges lead to a blood oxygen level dependent (BOLD) response that is significantly different to that obtained by examining random 'events'. We also use this approach to examine the optimization of analysis strategy for detecting these BOLD responses. Two patients with frequent epileptiform events and a healthy control were studied. The fMRI data for each patient were analyzed using a model derived from the timings of the epileptiform events detected on EEG during fMRI scanning. Twenty sets of random pseudoevents were used to generate a null distribution representing the level of chance correlation between the EEG events and fMRI data. The same pseudoevents were applied to control data. We demonstrate that it is possible to detect blood oxygen level-dependent (BOLD) changes related to interictal discharges with specific and independent knowledge about the reliability of this activation. Biologically generated events complicate the fMRI-EEG experiment. Our proposed validation examines whether identified events have an associated BOLD response beyond chance and allows optimization of analysis strategies. This is an important step beyond standard analysis. It informs clinical interpretation because it permits assessment of the reliability of the connection between interictal EEG events and the BOLD response to those events.

Purpose: Dysembryoplastic neuroepithelial tumours (DNET) are an important cause of refractory partial epilepsies. They usually occur within dysplastic cortex and tend to affect the temporal lobes. The EEG of these patients is characterised by slowing and/or epileptiform abnormalities with a multifocal distribution. We studied the EEG features of epilepsy patients with a temporal lobe DNET to assess the relationship of EEG abnormalities with the localisation of the tumour and the clinical features., Methods: We retrospectively reviewed 16 patients with unilateral, temporal lobe DNET on MRI. The EEG abnormalities were classified as concordant to the lesion when the EEG discharges were confined to the ipsilateral temporal lobe or discordant when EEG discharges were found in other areas. Clinical and epilepsy characteristics were compared between patients with concordant and discordant EEG., Results: Focal EEG abnormalities were found in 81% of the patients; 6/16 patients had concordant EEG abnormalities, and 7/16 patients had discordant EEG abnormalities. Epilepsy severity prior to the operation, antecedents and post-operative outcome were not different between patients with concordant or discordant EEG abnormalities., Conclusion: Patients with temporal lobe DNET often show EEG discharges discordant to the tumour. However, they do not appear to predict the clinical and epilepsy characteristics of these patients., (Copyright John Libbey Eurotext 2003.)

A 21-year-old right-handed man with definite diagnosis of aspartylglucosaminuria (AGU) presented with a 5-year history of progressive severe gait disturbance with frequent falls and generalized epileptic seizures triggered by unexpected stimuli. At one time, he was confined to a wheelchair because of the frequent falls. Electromyogram recording showed a large, excessive and not habituating motor startle response, with the classical and stereotyped order of muscle recruitment. During video-polygraphic recording, we recorded a reflex generalized tonic seizure triggered by a loud, unexpected acoustic stimulus. Brain magnetic resonance (MR) revealed no structural abnormality. A diagnosis of abnormal startle and startle epilepsy (SE) was made. The addition of clonazepam to valproate and phenobarbital led to a dramatic improvement in his abnormal startle and SE, and the patient was able to walk alone unaided. This report illustrates, for the first time, that abnormal startle and SE may occur in AGU and complicate its clinical picture. Recognition of this entity in AGU is important, as progressive gait disorder with frequent falls could be easily misinterpreted as an additional irreversible manifestation of the ongoing neurological deterioration characteristic of AGU.

Objective: To report on five patients with temporal lobe epilepsy (TLE) as the unique manifestation of multiple sclerosis (MS)., Methods: Among 350 consecutive MS patients, we identified 16/350 (4.6%) who also had epileptic seizures. Here, we review their electrophysiological and clinical features., Results: Five of these 16 patients (four female, one male; mean age 34.2 years; range 31 to 38) with MS and epileptic seizures had an extremely homogeneous clinical picture characterized by TLE as the unique manifestation of MS, even at long follow-up (mean: five years; range 4 to 10). In all patients, seizures started in the second or third decade. Brain MRI revealed at least one juxta-cortical lesion within the temporal region. Antiepileptic medication was always effective., Conclusions: The present study provides the first evidence of a peculiar form of MS characterized by TLE as the unique manifestation of the disease with no disability or MS relapses at long-term follow-up.