Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P50583 (asymmetrical)
 12,197 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report on a 15-year-old boy with epilepsy and mental retardation who had been repeatedly shunted since birth for hydrocephalus. This child showed at imaging an unusual, severe and complex brain malformation consisting of distorted gyral patterns with deeply infolded mantle in the parietal-lateral and posterior-temporal lobes, normal versus dysplastic cortex, unseparated thalami, thin white matter, collapsed ventricles, partial frontal corpus callosum agenesis, closely apposed superior and middle cerebral peduncles with narrow fourth ventricle, continuity of posterior cerebellum hemispheric foliar patterns across the midline, closely apposed cerebellar peduncles, asymmetrical hypogenesis of the vermis and herniation of the cerebellar hemispheric pattern up through the tentorial incisure. In addition, this boy had congenital skeletal and skin anomalies including pre-axial hexadactyly with thumb duplication, wide bone occipital lacunae (catlin mark) with partial occipital suture synostosis, cutis vertex rigirata and a tuft of hair in the outer region of the right eyebrow. Several of these cerebral and cerebellar abnormalities were suggestive of rhombencephalosynapsis. Nonetheless, many of these brain abnormalities are also recorded in Chiari type 2 malformation after operative shunting. To the best of our knowledge, however, this complex constellation of nervous system, skeletal and skin abnormalities has not been previously reported.
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PMID:A complex brain malformation syndrome with rhombencephalosynapsis, preaxial hexadactyly plus facial and skull anomalies. 1613 55

Paroxysmal motor phenomena and arousals during sleep are frequent. The differential diagnoses between benign hypnic transient events, epileptic and non-epileptic seizures represent a common clinical problem. Video-EEG monitoring during sleep, recording several episodes in the same patient, is essential in order to characterize these phenomena. It offers the possibility to compare electro-clinical data, to demonstrate the eventual stereotyped pattern of motor phenomena and their progression in time, and to study EEG-polygraphic correlates. The recently described double split-screen synchronized display (DSSSD) technique represents a useful tool for comparing particular clinical patterns of epileptic seizures when dealing with complex, hypermotor phenomena observed in frontal lobe epilepsy. We reviewed the data of 24 patients admitted during a two-year period (2002-2003) to our epilepsy sleep unit for isolated paroxysmal sleep motor events. Four patients presented with very brief paroxysmal arousals without daytime fits. Three of our patients presented isolated paroxysmal arousals, whereas in one, the events were associated with hypermotor seizures. We present a simplified variant of the DSSSD method (modified DSSSD) that can be used to study episodes of paroxysmal arousals in order to confirm their stereotyped motor pattern. The clinical aspects and the EEG-polygraphy patterns were informative, with the absence of asymmetrical tonic or dystonic posturing of the limbs. Scalp EEG alone does not usually provide much information in patients with isolated paroxysmal arousals. Coupled to the modified DSSSD technique, it may allow confirmation of the diagnosis of frontal epilepsy, as was the case in our four patients. [Published with video sequences].
Epileptic Disord 2006 Mar
PMID:Isolated paroxysmal arousals as focal epilepsy. 1656 25

We hypothesized that brain activation during encoding and retrieval of visual material differed between epilepsy patients with hippocampal sclerosis (HS) and healthy controls. Eleven patients with epilepsy and HS and nine age- and education-matched control subjects were tested during functional MRI recording. A three-block design for visuospatial memory encoding and retrieval and an interference interval longer than 1 minute without memory tasks were used. All subjects revealed parietal, occipital, and prefrontal activation patterns during encoding. Interference revealed parietal more than occipital activation, whereas retrieval revealed asymmetrical frontal and parietal activation. Patients demonstrated a relative increase in occipitoparietal versus frontal cortical activation as compared with controls. Memory performance did not differ between patients and controls. The increased activation in occipitoparietal versus frontal areas in the patients suggests cortical reorganization of visuospatial recognition memory in epilepsy patients with HS. The study is limited by other factors that may contribute to the results, for example, antiepileptic drugs, effects of greater cognitive effort allocated in patients than controls, and possibly subclinical epileptic activity. However, normal visuospatial memory performance in our patients with HS suggests successful network plasticity.
Epilepsy Behav 2006 May
PMID:Frontoparietal activation during delayed visuospatial recall in patients with epilepsy due to hippocampal sclerosis. 1661 47

Spreading depression (SD), a self-propagating wave of reversible cellular depolarization, is thought to play an important role in brain pathophysiology. SD and seizures are closely related events but little is known about involvement of SD in chronic epileptogenesis. Here we show that cortical SD is the first and highly reproducible manifestation of audiogenic kindling induced by repeated sound stimulation of WAG/Rij rats with genetic audiogenic and absence epilepsy. Repetition of sound-induced running seizures in freely moving rats led to an appearance and gradual intensification of post-running facial and forelimb clonic convulsions coupled with afterdischarge in the fronto-parietal cortex. Before the development of these traditional manifestations of audiogenic kindling, an unilateral cortical SD wave began to be triggered by audiogenic seizures. Once cortical SD appeared, it became a permanent component of subsequent seizures. SD was always recorded in the hemisphere ipsilateral to the running direction. Only at the late stages of audiogenic kindling SD developed bilaterally. To estimate the contribution of SD in postictal effects of audiogenic seizures, we compared cortical activity after seizures induced SD or not. It was found that only seizures with cortical SD were followed by postictal suppression of spontaneous spike-wave discharges displayed by WAG/Rij rats. The results show that (1) cortical SD is readily triggered by brief sensory-induced seizures in awake animals; (2) SD may be responsible for postictal changes in cortical activity; (3) unilateral initiation of SD suggests asymmetrical recruitment of the cortex into seizure network during audiogenic kindling.
Epilepsy Res 2006 Sep
PMID:Unilateral cortical spreading depression is an early marker of audiogenic kindling in awake rats. 1680 30

We recently experienced a case with asymmetrical cortical abnormality on MRI with focal status epilepticus following severe hypoglycemia. The cerebral blood flow and metabolisms for oxygen and glucose were determined using positron emission tomography (PET) during focal status epilepticus following severe hypoglycemia and at the follow-up period. Prolonged seizure activity produced profound glucose hypermetabolism and mild hyperemia in the region of the presumed cortical focus of epilepsy and in structures anatomically remote from the focus, corresponding to the areas of abnormal signal intensity on the MRI. The patient remained comatose and exhibited a diffuse hypoperfusion/hypometabolism and symmetrical brain atrophy on the follow-up PET and MRI, respectively. Cytotoxic brain edema due to profound glucose metabolism without compensatory increase of the blood flow during status epilepticus may account for the brain abnormality observed on the early MRI. Simultaneous examination of the cerebral blood flow and metabolism using PET can provide useful information about the pathology in patients with status epilepticus.
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PMID:Magnetic resonance imaging and positron emission tomography findings in status epilepticus following severe hypoglycemia. 1687 11

In this work, we propose a symmetrical multimodal EEG/fMRI information fusion approach dedicated to the identification of event-related bioelectric and hemodynamic responses. Unlike existing, asymmetrical EEG/fMRI data fusion algorithms, we build a joint EEG/fMRI generative model that explicitly accounts for local coupling/uncoupling of bioelectric and hemodynamic activities, which are supposed to share a common substrate. Under a dedicated assumption of spatio-temporal separability, the spatial profile of the common EEG/fMRI sources is introduced as an unknown hierarchical prior on both markers of cerebral activity. Thereby, a devoted Variational Bayesian (VB) learning scheme is derived to infer common EEG/fMRI sources from a joint EEG/fMRI dataset. This yields an estimate of the common spatial profile, which is built as a trade-off between information extracted from EEG and fMRI datasets. Furthermore, the spatial structure of the EEG/fMRI coupling/uncoupling is learned exclusively from the data. The proposed data generative model and devoted VBEM learning scheme thus provide an un-supervised well-balanced approach for the fusion of EEG/fMRI information. We first demonstrate our approach on synthetic data. Results show that, in contrast to classical EEG/fMRI fusion approach, the method proved efficient and robust regardless of the EEG/fMRI discordance level. We apply the method on EEG/fMRI recordings from a patient with epilepsy, in order to identify brain areas involved during the generation of epileptic spikes. The results are validated using intracranial EEG measurements.
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PMID:Symmetrical event-related EEG/fMRI information fusion in a variational Bayesian framework. 1740 72

Adams-Oliver syndrome is characterized by aplasia cutis congenita and variable degrees of terminal transverse limb defects. Other associated anomalies were described in the syndrome. Most described cases follow an autosomal dominant pattern of inheritance. Sporadic and autosomal recessive cases, however, were reported. In this study, we report on three Egyptian patients with Adams-Oliver syndrome from three different families. The parents were normal and consanguineous in all three families. There was history of similarly affected sibs for two cases. These findings denote autosomal recessive inheritance. The reported cases had typical skull and limb anomalies with cutis marmorata telangiectatica congenita. We observed additional rare manifestations in the form of microcephaly, psychomotor retardation, epilepsy, eye anomalies and atrophic skin lesions. MRI of the brain in one of the studied cases revealed retrocerebellar cyst and mild asymmetrical cerebellar hypoplasia, which to our knowledge, were not previously reported in Adams-Oliver syndrome. The results of this study provide further evidence of clinical and genetic heterogeneity and support the presence of autosomal recessive variant of Adams-Oliver syndrome.
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PMID:Adams-Oliver syndrome: further evidence of an autosomal recessive variant. 1755 26

We report the history of a 14-year-old girl with atypical childhood occipital epilepsy "Gastaut type" whose first generalized tonic-clonic seizure was preceded by migraine without aura and followed by a status migrainosus. This status lasted for 3 days despite standard analgesic therapy. An EEG recording revealed an occipital status epilepticus during her migraine complaints. Seven minutes after intravenous administration of 10 mg diazepam under continuous EEG recording, a suppression of the epileptiform discharges over the right occipital was seen, while the headache subsided 3 min later. After precise questioning about the circumstances that possibly could have led to these events, it appeared that she had played for hours with a play station on the new color TV and she had visited an exhibition of Matisse and Bonnard with bright colors and contrast-rich text. Standardized extensive intermittent photic stimulation (IPS), 2 days after the status migrainosus, evoked besides asymmetrical right-sided driving, green spots in her left visual field, while in the EEG sharp waves were recorded over the right parietotemporal region. After further IPS with 20 Hz (eye closure), she started complaining of a light pulsating headache right occipitally and in the EEG right parietotemporal sharp-waves were seen. This lasted for about 10 min. Later, an interictal routine EEG was normal except for some theta over the right temporooccipital area. The most likely diagnosis is an atypical form of occipital epilepsy "Gastaut type." We would therefore advocate recording EEGs with photic stimulation in patients with atypical migraneous features.
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PMID:A case with atypical childhood occipital epilepsy "Gastaut type": an ictal migraine manifestation with a good response to intravenous diazepam. 1771 60

The aim of the study described here was to analyze findings in 15 cases who were admitted with nonconvulsive status epilepticus (NCSE) and whose EEGs featured atypical triphasic waves (ATWs). We also investigated whether ATWs are useful for diagnosing this condition. Mental status was assessed, and EEGs were recorded during/after the antiepileptic drug treatment. Eight patients had metabolic disorders and nine had intracranial pathology. The ATWs were unilateral focal in 5 cases and bilaterally asymmetrical focal in 10 cases. In 11 of the 15 cases, the ATWs disappeared and mental status improved after treatment. NCSE should be considered in any individual who presents in an acute confusional state and whose EEG reveals either unilateral or bilaterally asymmetric ATWs.
Epilepsy Behav 2007 Dec
PMID:Significance of atypical triphasic waves for diagnosing nonconvulsive status epilepticus. 1794 73

A 24-year-old man presented with closed-lip schizencephaly around the right central sulcus manifesting as an 11-year history of intractable epilepsy. Mild motor paresis in the left extremities and mental retardation were observed. Tonic posture with bilateral facial tonic contraction was asymmetrical, predominantly in the left extremities. Magnetic resonance imaging demonstrated closed-lip schizencephaly around the right central sulcus. The epileptogenic zone was determined in the supplementary motor area, and premotor and primary sensorimotor cortices using invasive recordings. As the thickened cortex was considered functional, corticectomy of the supplementary motor area and premotor area was performed, preserving the primary sensorimotor area. Histological examination revealed marked cortico-subcortical gliosis, particularly in the medial part of the resection. Asymmetrical tonic postural seizure disappeared completely after surgery. Medically intractable epilepsy with schizencephaly represents a considerable challenge in epilepsy surgery. Partial corticectomy adjacent to the thickened cortex was effective for seizure control in a patient with closed-lip schizencephaly around the central sulcus.
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PMID:Closed-lip schizencephaly around the central sulcus with intractable epilepsy treated by peri-lesional focus resection. 1803 9


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