Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149958 (complex partial seizures)
 2,563 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We present two patients aged 66 and 69, with a rapidly progressive disease (10 and 15 months' duration) in which the presenting symptom was instability of gait. Later dementia was also a prominent feature. One case had myoclonus. Repeated EEGs showed symmetrical slowing in one case and periodic generalised bursts of triphasic waves at 1 cps superimposed upon a slow (3-4 cps) background activity in the other. The pathological findings consisted of classical Creutzfeld-Jakob disease (CJD), Kuru plaques (KP) were disseminated in the brain, but were more numerous in the cerebellum, putamen and thalamus. Neurons with large vacuoles in the cytoplasm were numerous in the putamen, thalamus and anterior horns. Stress is laid upon the common findings in both CJD and Kuru (K) (clinical features, pathological data, lack of antibody response, transmissibility, change in pattern on transmission). The possibility of a common origin of the two diseases is discussed.
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PMID:Kuru plaques in the brain of two cases with Creutzfeldt-Jakob disease. A common origin for the two diseases? 39 Jan 1

Eighteen women and five men had typical absences. These included 10% of a consecutive hospital series of 200 adult patients with epileptic disorders. The absences began between the ages of seven and 46 years and varied in type and severity. Twenty patients also had generalised tonic-clonic seizures, ranging in frequency from one in a lifetime to one per month. Myoclonic jerks of the limbs occurred in 11 patients but were not associated with the absence attacks. Eyelid myoclonus consistently occurred with absence attacks in four patients and perioral myoclonus in two patients. Absence status occurred in five patients. Absence seizures were frequently unrecognised or misdiagnosed as complex partial seizures. Satisfactory control was achieved with sodium valproate. Electroencephalography, particularly video-electroencephalography, was invaluable in the diagnosis, but focal abnormalities in seven patients might have been erroneously interpreted as indicating partial seizures. This series showed that clinical and EEG manifestations are often syndrome-related and that there are more epileptic syndromes with typical absences than those presently recognised.
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PMID:Typical absence seizures in adults: clinical, EEG, video-EEG findings and diagnostic/syndromic considerations. 146 93

A child had two to three generalized tonic-clonic (GTC) seizures per week unresponsive to phenobarbital (PB) and valproate (VPA). Interictal EEG demonstrated left occipital spikes. When carbamazepine (CBZ) therapy was started, he developed very frequent (4-6/day) complex partial seizures (CPS) characterized on ictal EEG by focal right temporal lobe discharges. The seizure exacerbation, which was associated with development of nonepileptic, multifocal myoclonus, resolved 24 h after CBZ was discontinued. The exacerbation occurred with therapeutic CBZ serum levels, but may have been related to the toxic levels of carbamazepine-10, 11-epoxide (CBZE).
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PMID:Exacerbation of partial seizures and onset of nonepileptic myoclonus with carbamazepine. 190 Jul 90

We describe a patient with epilepsy characterized by eyelid myoclonus, which often evolved into complex partial seizures, hemiconvulsions, or generalized convulsions. The outstanding feature was that seizures became markedly more frequent on exposure to light, movement in daily life, and hot water immersion. The patient was highly susceptible to seizures under constant light, but the dopamine level in the cerebrospinal fluid was quite low, and administration of levodopa transiently suppressed the seizures.
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PMID:Epileptic seizures precipitated by constant light, movement in daily life, and hot water immersion. 400 84

We report the appearance of multifocal myoclonus in two adult patients treated with vigabatrin as an add-on drug for complex partial seizures. The myoclonus subsided after dose reduction or discontinuation of the drug. There were no electroencephalogram correlates during the myoclonic jerks. This phenomenon may represent a apparently dose-related rare adverse drug event, similar to that seen occasionally with other anticonvulsants.
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PMID:Vigabatrin and multifocal myoclonus in adults with partial seizures. 863 88

We describe a pedigree in which eight individuals presented with a non-progressive disorder with onset between the ages of 12 and 50 years. It was characterized by predominantly distal, semi-continuous rhythmic myoclonus (all patients), generalized tonic-clonic seizures (all patients) and complex partial seizures (three patients). Most individuals had rarely suffered seizures and had a normal cognitive level, but three individuals with intractable seizures had mild mental retardation. The pattern of inheritance was autosomal dominant with high penetrance. We defined this disorder as autosomal dominant cortical myoclonus and epilepsy (ADCME). All patients had frontotemporal as well as generalized interictal EEG abnormalities. A neurophysiological study of the myoclonus suggested a cortical origin. Back-averaging of the data generated a series of waves with a frequency that mirrored the frequency of EMG bursts. Frequency analysis identified significant peaks with coherence between EMG and EEG, which were recorded over the contralateral rolandic area in five patients. The frequency of coherence was 8-25 Hz and phase spectra confirmed that EEG activity preceded EMG activity by 8-15 ms. In two individuals there was also significant coherence between the ipsilateral EEG and EMG, consistent with the transcallosal spread of myoclonic activity. The C-reflex at rest was enhanced and somatosensory and visual evoked potentials were of high amplitude. The resting motor threshold intensity to transcranial magnetic stimulation was significantly reduced (38%; SD +/- 7; P = 0.01) and the post-motor evoked potential silent period (101 ms; SEM +/- 10) was significantly shortened compared with the controls (137 ms; SEM +/- 18). These clinical and neuro- physiological characteristics suggest diffuse cortical hyperexcitability and high propensity for intra-hemispheric and inter-hemispheric cortical spread, as well as rhythmic myoclonic activity. Genome-wide linkage analysis identified a critical region spanning 12.4 cM between markers D2S2161 and D2S1897 in 2p11.1-q12.2, with a maximum two-point LOD score of 3.46 at Theta 0.0 for marker D2S2175. Multipoint LOD score values, reaching 3.74 around D2S2175, localize the ADCME gene to the centromeric region of chromosome 2. The exclusion of the locus for familial adult myoclonic epilepsy on chromosome 8q23.3-q24 from linkage to our family and the new localization of the responsible gene to chromosome 2cen, together with the different phenotype, define a new epilepsy syndrome. We hypothesize that the responsible gene causes cortical hyperexcitability that is widespread but particularly involves the frontotemporal circuits.
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PMID:Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures: A newly recognized epilepsy syndrome with linkage to chromosome 2p11.1-q12.2. 1170

We report here a 9-year-old boy presenting with absence and complex partial seizures. Absence seizures occurred several times a day, with sudden arrest of speech and gesture, alteration of consciousness, myoclonus of unilateral or bilateral angles of the mouth, occasional simple automatism and brisk recovery of consciousness. Complex partial seizures occurred once to three times a month with loss of consciousness, salivation, deviation of the head and eyes toward the left, elevation of upper limbs and tonic convulsion of the left upper and lower limbs. Interictal EEG showed right frontal pole-dominant high-voltage slow waves or spike-and-waves. Ictal simultaneous video-EEG recordings of absence seizures revealed a frontal dominant 3-3.5 Hz spike-wave burst lasting several seconds. A partial seizure never preceded the absence seizure. Transverse topographical analysis revealed that the first spike component of the spike-wave burst of absence seizure always showed phase reversal on the right anterior temporal electrode. The following ones, however, showed phase reversal on the left anterior temporal electrode. Ictal EEG of the complex partial seizure could not be detected because it rarely occurred. There was no abnormal finding on brain MRI. Interictal single photon emission tomography (SPECT) indicated hypoperfusion of the dorsal and medial cortex of the right middle frontal lobe. Interictal positron emission tomography (PET) also indicated hypometabolic areas in the dorsal and medial cortex of the right frontal lobe, together with those in the right temporal and parietal cortex. EEG evolution and neuroimaging studies suggested that the epileptic focus of the absence seizure might have originated at the dorsal cortex of the right middle frontal lobe and immediately spread to the medial cortex. Both the seizures were well controlled by the combination of phenytoin and high dose sodium valproate.
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PMID:[A case with frontal lobe epilepsy presenting with absence seizures as cardinal manifestation: ictal EEG findings]. 1180 12

Described here is a case of a patient with left temporal lobe epilepsy and recurrent complex partial seizures associated with asystole. The posturing and myoclonus caused by the nonepileptogenic syncope during the asystole gave the appearance of secondary generalization prompting a surgical evaluation. A distinct atonic phase that interrupts the transition from a complex partial semiology to generalization is a critical clue to the presence of ictal asystole and is easily detected by video/EEG monitoring.
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PMID:Temporal lobe seizures triggering recurrent syncope by ictal asystole. 1892 82

We describe the electroencephalographic and clinical seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy (PLP-DE) in two patients [diagnosis confirmed by low cerebrospinal fluid (CSF) PLP, complete resolution of previously intractable seizures with PLP supplementation, negative pyridoxine-dependent epilepsy CSF biomarkers, and/or positive disease causing pyridox(am)ine 5'-phosphate oxidase gene mutation] along with a comprehensive review of the literature. One patient presented with neonatal tonic status epilepticus with subsequent generalized tonic-clonic seizures, and the second, with refractory complex partial seizures starting at 2 years of age. The pretreatment EEG revealed, interictally, burst suppression, multifocal independent sharp waves, and electrical status epilepticus in sleep. Ictally and interictally, it revealed runs of unilateral spike/slow waves. Previously reported features include burst suppression, myoclonus, tonic seizures, clonic seizures, and spasms. In the appropriate clinical scenario, the aforementioned features should raise the possibility of PLP-DE and appropriate treatment should be initiated. The first late-onset case (at 2 years) of PLP-DE is reported.
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PMID:Electroencephalographic and seizure manifestations of pyridoxal 5'-phosphate-dependent epilepsy. 2129 58

In this study, the authors characterized the clinical and EEG features of adult patients with Down syndrome who were referred, for more than a 10-year period, to the Epilepsy Clinic in the Cork University Hospital. A retrospective audit of the charts of 28 patients with Down syndrome who had an EEG performed in the Cork University Hospital between January 1, 2000, and September 30, 2009, including clinical follow-up, was carried out. Demographics, age at first seizure, seizure types, EEG findings, antiepileptic drugs, psychoactive medications, and seizure control were documented. Seizures most commonly began in the fourth decade of life. Generalized tonic-clonic seizures were the most common type of seizures (15 patients, 54%), followed by complex partial seizures (5 patients, 18%) and generalized myoclonus (4 patients, 15%). A number of patients had more than one type of seizure. Diffuse background slowing was the dominant EEG abnormality seen in 17 patients (60%). Epileptiform activity was present in 5 patients (18%): 2 had focal epileptiform discharges in the frontal regions, 1 in the central region, 1 in the central posterior region bilaterally, and 1 in the temporal regions. The six patients who had poor seizure control were those who had seizure onset from the fourth decade onward and clinically had complex partial seizures in combination with either generalized tonic-clonic or generalized myoclonus; four of them had epileptiform activity on EEG, with two having focal frontal epileptiform discharges: one in the central posterior areas bilaterally and one in the temporal regions. Five of the 28 patients had a normal EEG and 3 of these had a seizure disorder. There was no correlation found between use of psychoactive drugs and increased frequency/poor seizure control in patients in our study. This study documents the variability of clinical and electrophysiologic features in a well-characterized cohort of patients with Down syndrome with adult-onset epilepsy.
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PMID:Clinical and EEG features of seizures in adults with down syndrome. 2194 60


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