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)

Epileptic seizures are followed by dynamic alterations in neurological function in the postictal period. Although the first observation of such phenomena dates back to Bravais who described postictal hemiparesis in 1827, this critical period of time after seizure offset has received little attention in the literature. In this article, we report some of the most important postictal signs, such as postictal hemiparesis, postictal nose wiping, postictal language dysfunction, postictal headache and postictal cognitive impairment. Summarizing our own experience of the postictal state in more than 160 patients with focal epilepsy, we conclude that postictal signs can provide reliable information for the localization of the seizure onset zone in patients with focal epilepsy. Since the lateralization and localization of the seizure onset zone has become a major issue for the presurgical evaluation of those patients, we argue that more attention should be paid to the postictal state during video EEG monitoring. Moreover, in an ambulatory setting, the postictal period and its related signs is usually the only part of an epileptic seizure that is accessible to the physician's examination and might therefore add some information to the differential diagnosis of paroxysmal events, such as epileptic or psychogenic seizures [published with videosequences].
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PMID:Postictal signs of lateralizing and localizing significance. 1196 79

Neuropsychological tests were applied to 20 patients with focal epilepsy related to calcified neurocysticercosis (NCC) (mean: three lesions/patient; NCC group), 22 patients with focal epilepsy without NCC (EPI group), and 29 healthy controls matched for age, sex, and educational level. The EPI and NCC groups were matched for age at onset of epilepsy, epilepsy duration, frequency of attacks, seizure semiology, interictal EEG findings, and antiepileptic drugs used. There were no differences in the digit span, word span, calculus, and Mini-Mental State examination among the three groups studied. The NCC and EPI groups showed lower scores than controls in immediate and delayed verbal memory, famous faces test, spatial recognition span, abstractions and judgment, and visuoconstructional abilities. The EPI group, but not the NCC group, also had lower scores in a praxis tests. There were no differences between the NCC and EPI groups in any of the tests applied (P > 15), except for the spatial recognition span, which was lower in the former. Cognitive impairment is a prevalent neuropsychological feature of patients with epilepsy and NCC.
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PMID:Cognitive Performance of Patients with Epilepsy and Calcified Neurocysticercotic Lesions: A Case-Control Study. 1260 89

The neurocutaneous melanosis (NCM) is a rare, neuroectodermal dysplasia defined by the association of giant or multiple, nonmalignant pigmented cutaneous nevi with leptomeningeal melanosis or melanoma. As a rule, the cerebral pathological substratum is characterized by a melanocytic infiltration of the leptomeninges, often leading to hydrocephalus. The most frequent clinical symptomatology starts early in life, with convulsive seizures, psychomotor delay, intracranial hyperpression: the prognosis is severe. Malignant melanomas can also occur. One 21 years-old patient affected by NCM with a giant bathing nevus and epilepsy is reported. Her psychomotor development was slightly delayed. Academic progress was disturbed by the frequency of seizures and the multiple dermatological surgeries, and she remained at the elementary school level. Her epilepsy appeared at seven years and became pharmacoresistant. It was a focal, left temporal epilepsy. Neuroimaging investigations were performed repeatedly, and demonstrated the progressive appearance of parenchymal lesions with T1 and T2 shortening, without contrast enhancement, at the pons (11 years), the two hippocampi (14 years), and of an atrophy of the cerebellum and the brainstem (19 years). No hydrocephalus, tumoral aspect, or meningeal involvement were demonstrated. This patient's case is peculiar because her neurological symptomatology consists only of focal epilepsy, unrelated to a tumor, with moderate cognitive impairment despite a rather long course of the disease. Her evolution raises the question of condidency to surgical treatment.
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PMID:An unusual case of neurocutaneous melanosis. 1574 Nov 43

Focal cortical dysplasias (FCD) are defined as circumscribed malformations of cortical development. They result from an impairment of neuronal proliferation, migration and differentiation. In the diagnosis of focal epilepsy FCD prevalence ranges between 5% and 25%, depending on patient collective and imaging techniques. Several 'cryptogenic' epilepsies may be caused by FCD but have not been diagnosed because of the lack of high-quality magnetic resonance imaging assessment. Retrospective analysis of patients who have undergone epilepsy surgery can be biased because of the fact that they represent a mere subset of potential FCD diagnoses. Epilepsy typically manifests within the first years of life, but has been documented up to the age of 60 years. Cognitive impairment commonly accompanies early onset. Epilepsy is often refractory to antiepileptic drug (AED) treatment. Clinical observations and pathophysiological findings illustrate intrinsic epileptogenicity. Upregulation of drug transporter proteins has been found in FCD tissue. There is no specific drug treatment in FCD, as any AED used in focal epilepsy could prove effective. A sequential AED therapy should be designed individually and take side effects as well as developmental progresses into consideration. Fifty to sixty-five percent of FCD patients are rendered seizure-free after surgery. Presurgical evaluation should be initiated after two unsuccessful AED trials. Both risks and potential benefits regarding seizure control and developmental impairment need to be considered on an individual basis when deciding between surgical intervention and conservative treatment. Current knowledge on epilepsy course and psychomotor development in FCD is limited in the absence of qualified long-term studies combining imaging with cognitive evaluation.
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PMID:Focal cortical dysplasia: prevalence, clinical presentation and epilepsy in children and adults. 1641 66

Benign childhood epilepsy with centrotemporal spikes (BCECTS) is an idiopathic focal epilepsy syndrome, the benign characteristics of which are debated; in fact, stable or intermittent specific neuropsychological deficits are frequent and may affect scholastic or adaptive abilities. Cognitive dysfunction may be related to a marked increment of the interictal epileptic discharges in NREM sleep: different degrees of neuropsychological deficits depend on the extent of awake and sleep activity and the predominant discharge localization. The age of onset and duration of atypical sleep EEG patterns may correlate with permanent cognitive impairments. These atypical clinical and EEG evolutions have been reported in the literature as different syndromes that constitute the spectrum of idiopathic rolandic epilepsy. Moreover, a clinical link between BCECTS and early-onset benign childhood occipital epilepsy has been demonstrated. According to the neurobiological approach, the spectrum of Idiopathic Rolandic Epilepsy is based on an age-dependent, idiopathic predisposition to focal seizures and sharp-wave discharges, as an expression of nonlesional cortical excitability. The involvement of a given area of the cerebral cortex may depend on the brain maturational stage.
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PMID:The spectrum of idiopathic Rolandic epilepsy syndromes and idiopathic occipital epilepsies: from the benign to the disabling. 1710 65

A homozygous mutation of the CNTNAP2 gene has been associated with a syndrome of focal epilepsy, mental retardation, language regression and other neuropsychiatric problems in children of the Old Order Amish community. Here we report genomic rearrangements resulting in haploinsufficiency of the CNTNAP2 gene in association with epilepsy and schizophrenia. Genomic deletions of varying sizes affecting the CNTNAP2 gene were identified in three non-related Caucasian patients. In contrast, we did not observe any dosage variation for this gene in 512 healthy controls. Moreover, this genomic region has not been identified as showing large-scale copy number variation. Our data thus confirm an association of CNTNAP2 to epilepsy outside the Old Order Amish population and suggest that dosage alteration of this gene may lead to a complex phenotype of schizophrenia, epilepsy and cognitive impairment.
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PMID:CNTNAP2 gene dosage variation is associated with schizophrenia and epilepsy. 1764 49

Epilepsy is the most common and serious neurological symptom in ring chromosome 14 syndrome, also characterised by mild dysmorphisms, acquired microcephaly, cognitive impairment, hypotonia and ocular abnormalities. Typically, early-onset, polymorphous and drug-resistant seizures are reported. Status epilepticus has not been previously reported. We describe a nine-year-old Caucasian boy with ring 14 syndrome who presented a severe early-onset and drug-resistant focal epilepsy with secondary generalised seizures and repetitive episodes of convulsive and non-convulsive status epilepticus. The electro-clinical evaluation of prolonged seizures and their long-term consequences is important for the practical management of these patients and for a better comprehension of the syndrome.
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PMID:Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome. 2064 14

The study included 32 patients with idiopathic generalized epilepsy, 20 patients with cryptogenic focal epilepsy and 20 healthy controls. Cognitive functions were assessed using tests of long- and short-term verbal memory (auditory, visual and motor), attention and word fluency. Correlations between clinical features of the epileptic process and cognitive deficit were analyzed. Cognitive functions in patients with epilepsy were significantly lower compared to controls. Long-term auditory verbal memory and attention were significantly worse in patients with cryptogenic focal epilepsy compared to those with idiopathic generalized epilepsy. The cognitive dysfunction was correlated with seizure frequency, disease duration, lifetime number of seizures, in particular generalized tonic-clonic seizures.
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PMID:[Cognitive functions in patients with idiopathic generalized and cryptogenic focal epilepsy]. 2118 8

Recurrent transient ischemic attacks, migraine and dementia represent the principal symptoms of cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL). During the course of the disease, about 10% of patients may experience epileptic seizures, mainly related to the presence of an ischemic stroke. We present a 30-year-old woman with new-onset focal epilepsy leading to the diagnosis of CADASIL. The neuropsychological testing revealed no cognitive impairment. Interictal EEG demonstrated spikes and polyspikes with low amplitude over the right occipital region during NREM sleep. MRI showed white-matter hyperintensities on both hemispheres with confluent lesions at the right parieto-occipital junction, with juxtacortical components. Like in multiple sclerosis, we can suppose that this type of white matter lesions, close to the cortex, may be causative of seizures.
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PMID:Focal epilepsy as first symptom in CADASIL. 2141 9

Over the past decade, an increasing number of observations indicate that activation of inflammatory processes occurs in variety of focal epilepsies. Understanding the feature and consequences of neuroinflammation, including the contribution to development and perpetuation of seizures, as well as to mood or cognitive dysfunction, is a major requisite for delineating its role in epilepsy. The present article discusses the most recent observations supporting the involvement of the inflammatory response in human focal epilepsy. It also evaluates emerging evidence concerning the possibility to identify epilepsy-associated inflammatory biomarkers in cerebrospinal fluid and serum, as well as the potential application of neuroimaging approaches to study the inflammatory reactions in chronic epilepsy patients in vivo, aiming to improve the recognition of appropriate patient populations who might benefit from antiinflammatory or immunomodulatory therapies.
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PMID:Inflammation in epilepsy: clinical observations. 2154 43


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