Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014547 (focal epilepsy)
 1,627 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Focal cortical dysplasia (FCD) is considered to represent a malformation due to abnormal cortical development (MCD) and is an important cause of focal epilepsy. The histopathological features include abnormal laminar architecture, the presence of hypertrophic and dysmorphic neurones in FCD type IIA and additional balloon cells in FCD type IIB. The events causing these sporadic lesions are unknown, but abnormal progenitor cell proliferation occurring late in corticogenesis has been proposed. FCD-like lesions have, however, also been described following a cerebral injury early in life. We carried out a stereological assessment on 15 cases of FCD on NeuN- and Nissl-stained sections from patients with a wide age range, and identified a significant reduction in the neuronal density in all cases in the region of dysplasia compared to the adjacent unaffected cortex (mean neuronal densities 19.2x10(3)/mm3 in the region of dysplasia; 42.8x10(3)/mm3 in the adjacent cortex). Relative differences in neuronal density and size in FCD cases between the superficial (layer I and II) and deep cortical laminae (layer V and VI) were similar to that observed in other pathologies including mild MCD, temporal neocortex adjacent to hippocampal sclerosis as well as in a non-epilepsy surgical control group. The lower overall neuronal densities observed in FCD may reflect neuropil expansion, a local failure of neuronal migration, proliferation or secondary neuronal loss. The preservation of relative differences in neuronal densities between cortical layers and laminar patterns of neurofilament staining in FCD would support the view that the temporal sequence of lamination is not affected.
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PMID:Cortical neuronal densities and lamination in focal cortical dysplasia. 1615 26

Hemiconvulsions-hemiplegia-epilepsy syndrome (HH/HHE) is a rare epileptic syndrome consisting of a prolonged unilateral convulsion producing a persisting hemiplegia, sometimes followed by epilepsy. We report on a 13-month-old male who presented with febrile left-sided HH syndrome with right hemispheric unilateral cytotoxic oedema followed by hemispheric atrophy on magnetic resonance imaging (MRI). Six months later the child progressively developed refractory focal epilepsy, including right hemiclonic seizures, and nearly continuous left frontal rhythmic spikes, suggesting the presence of a focal cortical dysplasia (FCD). A repeat MRI at 2 years of age showed left frontal FCD. This unusual case of dual pathology--right HH syndrome and left FCD--suggests that some other factor than the malformation determined the prolonged status and brain atrophy. The kinetics of regional cortical maturation could explain this unusual condition.
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PMID:Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia. 1628 74

Identification of focal cortical dysplasia (FCD) on magnetic resonance (MR) images of young children with refractory focal epilepsy is important, as surgical resection may offer improvement of seizure control and subsequent developmental progress. However, the MR appearances of malformations of cortical development may change during brain maturation. We report 4 children with refractory focal epilepsy, whose MR images in infancy showed localized cortical and subcortical signal abnormalities (hypointense on T(2)-weighted and hyperintense on T(1)-weighted images), suggestive of abnormal cortical development. The visibility of these lesions was significantly reduced on later MR images. Subtle blurring of the gray-white matter junction in these areas was the only indicator of cortical abnormality in 3 patients, which was recognized only after comparison with earlier images. Taylor-type FCD was subsequently confirmed in all patients, following surgical cortical resection of the lesions. MR images performed early within the first year of life in children with epilepsy are important to identify areas of FCD. The appearances of FCD on later scans can be very subtle escaping recognition, and conclusions may be misleading with respect to diagnosis and appropriateness of surgical treatment.
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PMID:Taylor-type focal cortical dysplasia in infants: some MRI lesions almost disappear with maturation of myelination. 1639 66

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.
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PMID:Reflex periodic spasms induced by eating. 1641 21

Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes. Intractable focal seizures began in early childhood, after which language regression, hyperactivity, impulsive and aggressive behavior, and mental retardation developed in all children. Resective surgery did not prevent the recurrence of seizures. Temporal-lobe specimens showed evidence of abnormalities of neuronal migration and structure, widespread astrogliosis, and reduced expression of CASPR2.
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PMID:Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. 1657 80

Of the cases with nocturnal frontal lobe epilepsy (NFLE) approximately 30% are refractory to antiepileptic medication, with several patients suffering from the effects of both ongoing seizures and disrupted sleep. From a consecutive series of 522 patients operated on for drug-resistant focal epilepsy, 21 cases (4%), whose frontal lobe seizures occurred almost exclusively (>90%) during sleep, were selected. All patients underwent a comprehensive pre-surgical evaluation, which included history, interictal EEG, scalp video-EEG monitoring, high-resolution MRI and, when indicated, invasive recording by stereo-EEG (SEEG). There were 11 males and 10 females, whose mean age at seizure onset was 6.2 years, mean age at surgery was 24.7 years and seizure frequency ranged from <20/month to >300/month. Nine patients reported excessive daytime sleepiness (EDS). Prevalent ictal clinical signs were represented by asymmetric posturing (6 cases), hyperkinetic automatisms (10 cases), combined tonic posturing and hyperkinetic automatisms (4 cases) and mimetic automatisms (1 case). All patients reported some kind of subjective manifestations. Interictal and ictal EEG provided lateralizing or localizing information in most patients. MRI was unrevealing in 10 cases and it showed a focal anatomical abnormality in one frontal lobe in 11 cases. Eighteen patients underwent a SEEG evaluation to better define the epileptogenic zone (EZ). All patients received a microsurgical resection in one frontal lobe, tailored according to pre-surgical evaluations. Two patients were operated on twice owing to poor results after the first resection. Histology demonstrated a Taylor-type focal cortical dysplasia (FCD) in 16 patients and an architectural FCD in 4. In one case no histological change was found. After a post-operative follow-up of at least 12 months (mean 42.5 months) all the 16 patients with a Taylor's FCD were in Engel's Class Ia and the other 5 patients were in Engel's Classes II or III. After 6 months post-surgery EDS had disappeared in the 9 patients who presented this complaint pre-operatively. It is concluded that patients with drug-resistant, disabling sleep-related seizures of frontal lobe origin should be considered for resective surgery, which may provide excellent results both on seizures and on epilepsy-related sleep disturbances. An accurate pre-surgical evaluation, which often requires invasive EEG recording, is mandatory to define the EZ. Further investigation is needed to explain the possible causal relationships between FCD, particularly Taylor-type, and sleep-related seizures, as observed in this cohort of NFLE patients.
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PMID:Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. 1826 81

Benign focal epileptiform discharges of childhood are a genetically determined electroencephalographic trait. Assessment of their clinical relevance in children with epilepsy may be difficult if imaging reveals a lesion congruent or incongruous with the focus of the benign focal epileptiform discharges of childhood. This article reports a boy with parietooccipital benign focal epileptiform discharges of childhood in whom videoelectroencephalography and magnetic resonance imaging disclosed symptomatic frontal lobe epilepsy. Surgical removal of a focal cortical dysplasia in the left frontal lobe yielded freedom from seizures and positive behavioral and cognitive development. Nocturnal benign focal epileptiform discharges of childhood persisted until puberty (follow-up, 50 months). Early diagnostic differentiation of idiopathic syndromes such as idiopathic benign focal epilepsy of childhood from symptomatic focal epilepsies with a potentially less benign course is important. In symptomatic frontal lobe epilepsy, epilepsy surgery may yield an excellent outcome despite the presence of concurrent benign focal epileptiform discharges of childhood.
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PMID:Differentiating between benign and less benign: epilepsy surgery in symptomatic frontal lobe epilepsy associated with benign focal epileptiform discharges of childhood. 1762 29

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.
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PMID:Interictal high-frequency oscillations (100-500 Hz) in the intracerebral EEG of epileptic patients. 1762 37

Granule cell dispersion (GCD) is a common finding in hippocampal sclerosis in patients with intractable focal epilepsy. It is considered to be an acquired, post-developmental rather than a pre-existing abnormality, involving dispersion of either mature or newborn neurones, but the precise factors regulating it and its relationship to seizures are unknown. We present two cases of GCD with associated CD34-immunopositive balloon cells, a cell phenotype associated with focal cortical dysplasia type IIB, considered to be a developmental cortical lesion promoting epilepsy. This observation opens up the debate regarding the origin of balloon cells and CD34 expression and their temporal relationship to seizures.
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PMID:Balloon cells associated with granule cell dispersion in the dentate gyrus in hippocampal sclerosis. 1822 29

Malformations of cortical development (MCDs) are commonly complicated by intractable focal epilepsy. Epileptogenesis in these disorders is not well understood and may depend on the type of MCD. The cellular mechanisms involved in interictal and ictal events are notably different, and could be influenced independently by the type of pathology. We evaluated the relationship between interictal and ictal zones in eight patients with different types of MCD in order to better understand the generation of these activities: four had nodular heterotopia, two focal cortical dysplasia and two subcortical band heterotopia (double-cortex). We used the non-invasive EEG-fMRI technique to record simultaneously all cerebral structures with a high spatio-temporal resolution. We recorded interictal and ictal events during the same session. Ictal events were either electrical only or clinical with minimal motion. BOLD changes were found in the focal cortical dysplasia during interictal and ictal epileptiform events in the two patients with this disorder. Heterotopic and normal cortices were involved in BOLD changes during interictal and ictal events in the two patients with double cortex, but the maximum BOLD response was in the heterotopic band in both patients. Only two of the four patients with nodular heterotopia showed involvement of a nodule during interictal activity. During seizures, although BOLD changes affected the lesion in two patients, the maximum was always in the overlying cortex and never in the heterotopia. For two patients intracranial recordings were available and confirm our findings. The dysplastic cortex and the heterotopic cortex of band heterotopia were involved in interictal and seizure processes. Even if the nodular gray matter heterotopia may have the cellular substrate to produce interictal events, the often abnormal overlying cortex is more likely to be involved during the seizures. The non-invasive BOLD study of interictal and ictal events in MCD patients may help to understand the role of the lesion in epileptogenesis and also determine the potential surgical target.
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PMID:Different structures involved during ictal and interictal epileptic activity in malformations of cortical development: an EEG-fMRI study. 1866 86


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