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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Rasmussen encephalitis (RE) is a severe and progressive focal epilepsy of unknown origin that leads to deterioration of motor and cognitive function. In a previous study, we described positive effect of high doses of steroids during the first year after the onset of RE. The objective of this study was to evaluate this therapy at long term. We reviewed 11 patients (7 girls and 4 boys) with RE of the right hemisphere (7) and the left (4) at a follow-up of 9+/-2 years. Age at onset of RE ranged from 2 to 14 years. Six patients had no benefit from steroid therapy and underwent hemispherotomy. Five had significant reduction of seizure frequency with disappearance of epilepsia partialis continua, and improved motor function. Of these, two died of unexpected sudden death 5 and 7 years after seizure control. Two others with initial response experienced progressive recurrence of seizures 1 to 4 years after the end of steroid therapy and required hemispherotomy. Finally, only one patient exhibited total cessation of seizures with steroids for 3 years, but seizures progressively recurred although the frequency was moderate. Our data confirm that although steroid treatment can be useful when given early in the course of RE, long term relapse can occur among the good responders requiring delayed hemispheric disconnection.
Seizure 2007 Sep
PMID:Long term response to steroid therapy in Rasmussen encephalitis. 1740 81

Interictal fast oscillations between 100 and 500 Hz have been reported in signals recorded from implanted microelectrodes in epileptic patients and experimental rat models. Oscillations between 250 and 500 Hz, or fast ripples (FR), appeared related to the epileptic focus whereas ripples (80-200 Hz) were not. We report high-frequency oscillations recorded with intracranial macroelectrodes in seven patients with refractory focal epilepsy during slow-wave sleep. We characterize the relation of fast oscillations to the seizure focus and quantify their concordance with epileptiform transients, with which they are strongly associated. The patients were selected because interictal spikes were found within and outside the seizure onset zone. Visual inspection was used to identify and classify the ripples and FRs according to their relation to epileptiform spikes. Continuous-time wavelet analysis was used to compute their power. Ripples were present in all patients while FRs where found in five of the seven patients. Most ripples and FRs occurred at the same time as epileptiform transients. The rate of occurrence of ripples was higher within the seizure onset zone than outside in four of seven patients. The rate of FRs was much higher within the seizure onset zone than outside in four of the five patients with FRs (in these four patients, FRs were almost inexistent outside the seizure onset zone). The power of ripples and FRs tended to be higher in the electrodes where their rate was also higher. These results indicate that FRs were more restricted to the electrodes located within the seizure onset zone, especially to the hippocampus, than ripples. In only one patient, FRs were more frequent outside the seizure onset zone; this patient was the only one with cortical dysplasia and the electrode with a high rate of FRs was inside the lesion. This study demonstrates that interictal ripples and FRs can be recorded with depth macroelectrodes in patients. Most occur at the time of epileptiform spikes but some are isolated. Ripples do not show a clear differentiation between the seizure onset zone and remote areas, whereas FRs have a higher rate and higher power in the seizure onset zone. Our results also suggest a special capacity of the abnormal hippocampus to generate FRs, although they were also recorded in other structures.
Brain 2007 Sep
PMID:Interictal high-frequency oscillations (100-500 Hz) in the intracerebral EEG of epileptic patients. 1762 37

Currently, epilepsy can be treated with antiepileptic drugs and, in patients with focal and/or secondarily generalized seizures (focal epilepsy), by means of surgery and vagus nerve stimulation. In the choice of monotherapy possible negative drug related effects on cognitive, endocrine, and psychic symptoms must be considered. Newly developed antiepileptic drugs help to establish an individualized strategy, especially in antiepileptic drug monotherapy. Additionally these antiepileptic drugs have proven to be effective and well tolerated when combined with other antiepileptic drugs. Surgery of focal epilepsy offers the chance of complete cure. Vagus nerve stimulation is a nonmedical treatment option used in addition to antiepileptic drugs in patients with focal epilepsy. Tolerability and safety data should be considered to establish a long-term medical treatment tolerated and accepted by the patient.
Nervenarzt 2007 Sep
PMID:[Treatment of epilepsy in adults. Options and strategies]. 1762 66

Epilepsy surgery is an established therapy for pharmacoresistant focal epilepsy. This study investigated the contribution of routinely used magnetoencepahlography (MEG) in addition to long term video-EEG-monitoring in presurgical evaluation. The distribution of localization results to anatomical lobes was compared with special focus to MEG spike localization results in cases without or with ambiguous EEG findings. A total of 105 consecutive patients with intractable focal epilepsy and epilepsy surgery after investigation by video-EEG-monitoring and MEG were included. The percentages of monolobar results were analysed and compared, especially with respect to the resection lobe. Postoperative outcome was used for further validation. No spikes were recorded on MEG in 30% (32 of 105). In cases with a diagnostic finding by the respective method, MEG localized in 82% (60 of 73 patients) within one anatomical lobe. Ictal EEG localized within one lobe in 72% (66 of 92 patients), interictal EEG in 60% (59 of 98 patients). In 25 of 105 patients (24%) no clear localization within one lobe was found either in interictal or in ictal EEG. In 11 of these cases MEG localized within the resection lobe. Six patients of these became seizure free, the other five had at least 50% reduction of their seizure rate 1 year after surgery. In summary MEG is a useful tool in the routine workup for epilepsy surgery contributing information to focus hypothesis in addition to video-EEG.
Epilepsy Res 2007 Sep
PMID:Lobar localization information in epilepsy patients: MEG--a useful tool in routine presurgical diagnosis. 1771 4

Distinguishing propagated epileptic activity from primary epileptic foci is of critical importance in presurgical evaluation of patients with medically intractable focal epilepsy. We studied an 11-year-old patient with complex partial epilepsy by using simultaneous magnetoencephalography (MEG) and electroencephalography (EEG). In EEG, bilateral interictal discharges appeared synchronous, whereas MEG source analysis suggested propagation of spikes from the right to the left frontal lobe.
AJNR Am J Neuroradiol 2007 Sep
PMID:Magnetoencephalographic mapping of interictal spike propagation: a technical and clinical report. 1784 96

The objective was to investigate and classify headaches in 109 consecutive adult patients with epilepsy. A semi-structured interview was performed in those who confirmed such symptoms (65%). Interictal headaches were present in 52%; 20% had interictal migraine. Postictal headache was reported in 44%. Migraine characteristics were present in 42% of these, and most of them (74%) also suffered from interictal migraine. Six percent had preictal headache. In partial epilepsy, there was an association between headache lateralisation and interictal EEG abnormalities (p=0.02). We conclude that headache, including migraine, is very common in patients with epilepsy. Unilateral headache may represent a lateralising sign in focal epilepsy. Seizures often trigger postictal headaches with migraine features, which often are associated with interictal migraine. Migrainous headaches sometimes proceed into epileptic seizures. The comorbidity of migraine and epilepsy should receive ample clinical attention, as it may influence antiepileptic drug choice, and the headache may need specific treatment.
J Headache Pain 2007 Sep
PMID:Headaches add to the burden of epilepsy. 1790 22

Different lines of evidence have suggested an involvement of the insular cortex in pain processing. Direct electrical stimulation (ES) of the human insular cortex during surgical procedure sometimes induces painful sensations and painful stimuli induce activation of the insular cortex as shown by functional neuroimaging. Invasive evaluation of epileptic patients by deep brain stereotactically implanted electrodes provides an opportunity to analyze responses induced by ES of the insular cortex in awake and fully conscious patients. For this study, we included 25 patients suffering from drug refractory focal epilepsy with at least one electrode stereotactically implanted in the insular cortex using an oblique approach (transfrontal or transparietal). Out of the 83 responses induced by insular ES, eight (9.6%) were reported by five patients as painful sensations. Four were restricted to the cephalic region and four were felt on the ipsilateral or bilateral upper limbs, the shoulders and the trunk (pinprick sensations). The eight stimulation sites were anatomically localized via image fusion between pre-implantation 3D MRI and post-implantation 3D CT scans revealing the electrode contacts. All sites inducing painful sensations were restricted to the upper portion of the middle short gyrus of the insula. The findings of this study suggest that middle short gyrus is involved in the processing of pain-producing stimuli.
Pain 2008 Sep 15
PMID:Middle short gyrus of the insula implicated in pain processing. 1836 33

A boy with a right congenital hemiparesis due to a left pre-natal middle cerebral artery infarct developed focal epilepsy at 33 months and then an insidious and subsequently more rapid, massive cognitive and behavioural regression with a frontal syndrome between the ages of 4 and 5 years with continuous spike-waves during sleep (CSWS) on the EEG. Both the epilepsy and the CSWS were immediately suppressed by hemispherotomy at the age of 5 years and 4 months. A behavioural-cognitive follow-up prior to hemispherotomy, an per-operative EEG and corticography and serial post-operative neuropsychological assessments were performed until the age of 11 years. The spread of the epileptic activity to the "healthy" frontal region was the cause of the reversible frontal syndrome. A later gradual long-term but incomplete cognitive recovery, with moderate mental disability was documented. This outcome is probably explained by another facet of the epilepsy, namely the structural effects of prolonged epileptic discharges in rapidly developing cerebral networks which are, at the same time undergoing the reorganization imposed by a unilateral early hemispheric lesion. Group studies on the outcome of children before and after hemispherectomy using only single IQ measures, pre- and post-operatively, may miss particular epileptic cognitive dysfunctions as they are likely to be different from case to case. Such detailed and rarely available complementary clinical and EEG data obtained in a single case at different time periods in relation to the epilepsy, including per-operative electrophysiological findings, may help to understand the different cognitive deficits and recovery profiles and the limits of full cognitive recovery.
Eur J Paediatr Neurol 2009 Sep
PMID:Reversible acquired epileptic frontal syndrome and CSWS suppression in a child with congenital hemiparesis treated by hemispherotomy. 1894 26

Rolandic epilepsy (RE) is the most common human epilepsy, affecting children between 3 and 12 years of age, boys more often than girls (3:2). Focal sharp waves in the centrotemporal area define the electroencephalographic (EEG) trait for the syndrome, are a feature of several related childhood epilepsies and are frequently observed in common developmental disorders (eg, speech dyspraxia, attention deficit hyperactivity disorder and developmental coordination disorder). Here we report the first genome-wide linkage scan in RE for the EEG trait, centrotemporal sharp waves (CTS), with genome-wide linkage of CTS to 11p13 (HLOD 4.30). Pure likelihood statistical analysis refined our linkage peak by fine mapping CTS to variants in Elongator Protein Complex 4 (ELP4) in two independent data sets; the strongest evidence was with rs986527 in intron 9 of ELP4, providing a likelihood ratio of 629:1 (P=0.0002) in favor of an association. Resequencing of ELP4 coding, flanking and promoter regions revealed no significant exonic polymorphisms. This is the first report of a gene implicated in a common focal epilepsy and the first human disease association of ELP4. ELP4 is a component of the Elongator complex, involved in transcription and tRNA modification. Elongator depletion results in the brain-specific downregulation of genes implicated in cell motility and migration. We hypothesize that a non-coding mutation in ELP4 impairs brain-specific Elongator-mediated interaction of genes implicated in brain development, resulting in susceptibility to seizures and neurodevelopmental disorders.
Eur J Hum Genet 2009 Sep
PMID:Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4). 1917 91

Mapping the distribution of GABAA receptor subtypes represents a promising approach to characterize alterations in cortical circuitry associated with neurological disorders. We previously reported subtype-selective changes in GABAA receptor expression in the grey matter of patients with focal epilepsy. In the present follow-up study, we focused on the subcortical white matter in the same tissue specimens obtained at surgery from 9 patients with temporal lobe epilepsy (TLE) and hippocampal sclerosis, 12 patients with TLE associated with neocortical lesions and 5 patients with frontal lobe epilepsy; post-mortem tissue from 4 subjects served as controls. The subunit composition and distribution of three major GABAA receptor subtypes were determined immunohistochemically with subunit-specific antibodies. In all cases, a majority of neurons in the white matter was distinctly labelled, allowing detailed visualization of their dendritic arborization and revealing a differential, cell type-specific expression pattern of alpha-subunit variants. In controls, alpha1-subunit staining was most prominent, displaying a gradient that decreased with depth, in parallel with the density of NeuN-positive cells. Subsets of pyramidal cells were alpha3-subunit-positive, and alpha2-subunit-labelled neurons were rare. In 19 of the 26 patients with focal epilepsy, no changes were detected as compared with controls. In five patients with TLE, striking changes in the dendritic arborization of a subset of white matter neurons were seen with the alpha1-subunit antibody. In two further patients with TLE, we observed a disorganized dendritic network immuno-positive for the alpha1-subunit, cell clusters selectively expressing the alpha2-subunit and small neuronal aggregates that expressed all subunits and appeared to connect to neighbouring white matter neurons. All seven patients with anomalies in the white matter had a selective reduction in alpha3-containing GABAA receptors in the superficial layers of the grey matter. These results demonstrate a distinct organization of GABAA receptors in human white matter neurons, consistent with an inhibitory network that is likely to be integrated functionally with the overlying grey matter. The altered dendritic morphology and changes in GABAA receptor expression in the white matter of a subset of patients with focal epilepsy are suggestive for a rewiring of neuronal circuits.
Brain 2009 Sep
PMID:Selective changes in GABAA receptor subtypes in white matter neurons of patients with focal epilepsy. 1957 38


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