Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036572 (seizures)
 80,221 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of a young woman who suffers from refractory epilepsy in the form of Rasmussen encephalitis and acute intermittent porphyria is presented. The patient developed refractory partial seizures with progressive hemispheric atrophy in the first decade. Both her serum and cerebrospinal fluid contained significantly elevated levels of anti-GluR3B antibodies. Her serum also contained anti-NR2A antibodies (directed against the N-methyl-D-aspartate receptor). Seven years later, acute intermittent porphyria was diagnosed as she developed an acute episode of abdominal pain, dark urine, and hyponatremia. For several years, all attempts to discontinue porphyrinogenic antiepileptic drugs such as phenobarbital and valproate resulted in seizure worsening. During a major acute intermittent porphyria crisis, brain edema and coma developed, allowing the discontinuation of phenobarbital. On recovery, atrophy of the right hemisphere ensued. Several etiologic hypotheses are presented. Double insults, porphyria, and an autoimmune process are suggested for the development of Rasmussen encephalitis in this patient. The authors recommend testing for porphyria in cases of Rasmussen encephalitis and other intractable seizures.
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PMID:Acute intermittent porphyria, Rasmussen encephalitis, or both? 1760 16

Rasmussen syndrome (RS) is a clinical diagnosis characterized by persistent focal seizures in a previously healthy child. Occasionally, the typical features of RS may be followed by another diagnosis. We discuss the course of a 12-year-old girl who presented with RS but was later diagnosed with CNS granulomatous disease and NOD2/CARD15 mutations. Her response to infliximab suggests that it should be included in immune-modulatory therapies used to treat these refractory disorders.
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PMID:Rasmussen syndrome and CNS granulomatous disease with NOD2/CARD15 mutations. 1769 84

About 30 years ago, an autoimmune reaction was hypothesised in animal models of epilepsy and for the genesis of the 'mirror focus' in some patients with refractory epilepsy. However, this hypothesis did not attract attention among clinicians. During the 1950s, cortisone and corticotropin appeared to be efficacious in some epileptic syndromes, but the link with the immune system was not made. Furthermore, controlled studies were not rigorously planned and the best dosage and schedule still remain unknown. Later, immune deficits were described in patients with epilepsy, but the origin (disease-related or treatment-related) of these deficits is still open. An immunogenetic predisposition was also described in these patients, but results were often contradictory. During the 1980s, the successful use of intravenous immunoglobulin (IVIg) in childhood epilepsies again suggested a possible autoimmune process in some patients. During the last few years, specific autoantibodies have been found in Rasmussen disease and other epileptic syndromes. Immunomodulatory treatments (IVIg, plasmapheresis) have been used with significant success in refractory epilepsies, and IVIg is considered by most epileptologists as the first-choice treatment in Rasmussen syndrome. Recent work has shown that autoantibodies directed against some brain components might interact with ion-gated channels or neurotransmitters and therefore affect the stability of neuronal membranes. Autoimmune mechanisms are considered possible in the process of epileptogenesis. Taking this hypothesis further, immunomodulatory treatment at the time of brain injury (such as by trauma, prolonged seizures or stroke) could offer a preventive approach against epileptogenesis and therefore prevent recurrent seizures.
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PMID:Immunological mechanisms in the aetiology of epilepsy: implications for treatment. 1803 Nov 69

Mutations in the SCN 1 A gene, encoding the neuronal voltage-gated sodium channel alpha1 subunit, cause SMEI, GEFS+, and related epileptic syndromes. We herein report the R1575C-SCN 1 A mutation identified in a patient with Rasmussen encephalitis. R1575C were constructed in a recombinant human SCN 1 A and then heterologously expressed in HEK293 cells along with the human beta1 and beta2 sodium channel accessory subunits. Whole-cell patch-clamp recording was used to define biophysical properties. The R1575C channels exhibited increased channel availability and an increased persistent sodium current in comparison to the wild-type. These defects of electrophysiological properties can result in neuronal hyperexitability. The seizure susceptibility allele may influence the pathogenesis of Rasmussen encephalitis in this case.
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PMID:Rasmussen encephalitis associated with SCN 1 A mutation. 1803 52

The relatively high percentages of patients with epilepsy, in whom seizures are uncontrolled in spite of optimal antiepileptic drug use, lead to continuous struggles to improve the treatment of epilepsy. The advances in defining the genetic basis of epilepsy can potentially lead to better understanding of the disorder as well as to more effective treatment. An example is the finding of SCN1A gene mutations in association with a large spectrum of neurological diseases, from generalized epilepsy with febrile seizures plus (GEFS +) to severe myoclonic epilepsy of infancy and to vaccine-induced encephalopathy and Rasmussen encephalitis, Panayiotopoulos syndrome and familial hemiplegic migraine. In parallel, throughout the world, imaging modalities of very high technology are being used to define the epileptogenic focus. A description from The Hospital for Sick Children in Toronto, of a topographic movie of high frequency oscillations on the brain surface, which allows visualization of the dynamic ictal changes, is remarkable. The ketogenic diet is a significant treatment option. The John Freeman Epilepsy Center in Johns Hopkins Hospital leads the way in using the diet in very young infants, including West syndrome. The vagus nerve stimulation is being used as another relatively safe and effective treatment, while epilepsy surgery continues to be applied. Better matching of patients to each modality can be expected with increased success in seizure control.
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PMID:[Epilepsy in Israel--2008]. 1835 70

Epilepsia partialis continua (EPC) is a rare form of focal status epilepticus. It may have vascular, immune-mediated, neoplastic or metabolic-toxic causes. The origin of EPC has been linked with the motor cortex. This has been solidly supported by sophisticated electrophysiological studies. Here, a series of video sequences from patients with EPC (due to Rasmussen encephalitis, early-stage multiple sclerosis, and steroid responsive encephalopathy with autoimmune thyroiditis), and other cases with repetitive myoclonic jerks or movement disorders (myoclonic epilepsy associated with ragged-red fibers, Jacksonian march, myoclonic seizures in other types of frontal lobe or idiopathic generalized epilepsies, and different types of tremor) is presented. [Published with video sequences].
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PMID:Epilepsia partialis continua: semiology and differential diagnoses. 1836 24

Hemispheric disconnection has been largely proposed for patients with severe epilepsy associated with a congenital or acquired hemispheric cerebral pathology. The classical procedure of anatomical hemispherectomy was progressively abandoned by neurosurgeons in order to avoid postoperative complications since then hemispherotomy techniques have been developed. Globally, with hemispheric disconnection, the rate of patients becoming seizure-free has been between 50 and 80%. The factors affecting seizure control have not been completely elucidated, but several authors suggested that differences in etiology as well as the hemispheric disconnection technique used may partially explain this variability. The percentage of seizure-free patients is higher with hemispherotomy techniques and in the group of patients with Rasmussen encephalitis, Sturge-Weber syndrome, and vascular insults. Depending on overall long-term progression, there is an improvement compared to preoperative status even if children exhibit heterogenous abilities. The lowest scores are observed for motor skills but communication and socialization are relatively well-preserved and strongly related to the duration of epilepsy: the longer the duration, the lower the scores were. Neuropsychological outcome following hemispheric disconnection makes it possible to study the development of hemispheric specialization during infancy and to provide information on cognitive recovery. Cerebral reorganization has been proved to exist in motor and language recovery. Ipsilateral corticospinal pathways seem to be involved in the movement of hemiplegic limbs. Everyday language can be supported by both hemispheres, but there is an early hemispheric specialization of the left hemisphere according to metaphonologic abilities.
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PMID:[Long-term outcome after hemispheric disconnection]. 1842 74

We report the case of a 35-year-old who was referred for brain perfusion single photon emission computed tomography (SPECT) for pharmacoresistant epilepsy. Her medical history included brain surgery for an inflammatory lesion of unknown origin at age 23 before partial epilepsy occurred. The seizures became refractory to standard antiepileptic drugs and she developed epileptic negative myoclonus of the right upper limb, nocturnal motor seizures, and progressive intellectual impairment. Neurological symptoms slowly worsened with mild aphasia and right visual neglect. Inter-ictal brain SPECT showed decreased cerebral blood flow on the left hemisphere corresponding on magnetic resonance imaging (MRI) with moderate left hemiatrophy, a left frontal defect in accordance with the history of surgery, and a crossed cerebellar diaschisis. Clinical and imaging data were in favor of a late-onset form of Rasmussen encephalitis. Rasmussen syndrome is a rare unilateral devastating disease with childhood onset that can also occur in adulthood, characterized by intractable epileptic seizures associated with progressive neurological deterioration and unilateral progressive atrophy. Brain perfusion SPECT can speed up the diagnosis when exhibiting a strictly unilateral hemispheric hypoperfusion in such a clinical context. It can also guide brain biopsy in cases of inconclusive MRI.
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PMID:Perfusion SPECT findings in a suspected case of Rasmussen encephalitis. 1902 26

A 5-year-old girl presented with intractable seizures and nonfocal hemispheric slowing on EEG. Blood, urine, and CSF laboratory values were all normal. MR imaging of the brain demonstrated diffuse volume loss of the entire left hemisphere. Clinical and imaging findings were consistent with the diagnosis of Rasmussen encephalitis. Diffusion tensor imaging demonstrated increased ADC values and decreased fractional anisotropy (FA) of the affected (left) hemisphere. Tractography data showed decreased numbers of lines drawn in the affected hemisphere, with fewer lines drawn at higher FA thresholds, relative to the contralateral hemisphere, or to normal age-matched controls. Diffusion tensor imaging offers an adjunct MR imaging modality in diagnosis and monitoring of this rare condition.
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PMID:Diffusion tensor imaging and tractography of Rasmussen encephalitis. 1939 Aug 48

A 9-year-old boy diagnosed as having Rasmussen syndrome had congenital IgA deficiency and juvenile alopecia. He developed auditory hallucination and consciousness disturbance with intractable complex partial epileptic status. Anti-glutamate receptor epsilon2 antibodies were detected in his serum and cerebrospinal fluid. He was administered immunomodulatory agents and his seizures were treated with an intravenous anticonvulsant for 2 months. Subsequently, he developed a nephrotic syndrome, which proved to be membranous nephropathy and was treated with cyclophosphamide. Anti-basement membrane antibodies were detected in his serum. The boy died at the age of 14 years, and autopsy revealed diffuse brain atrophy with neuronal loss, infiltration of glial cells in the cerebrum, and loss of Purkinje cells in the cerebellum. A kidney specimen contained many sclerotic glomeruli, indicative of progressive membranous nephropathy. The patient was considered to have multimodal autoimmune disorder producing juvenile alopecia, autoimmune encephalitis, and a membranous nephropathy, based on the congenital IgA deficiency.
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PMID:Rasmussen syndrome combined with IgA deficiency and membranous nephropathy. 1943 84


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