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

From June. 1987 to Dec. 1988, data was collected from 12 cases with Congenital Brain Anomalies. The cases involved 7 girls and 5 boys with ages ranging from 2 days to 15 years old. Abnormalities diagnosed were Cavum-septi pellucidi; Cavum vergae; Cystic dilated cavum; Cavum veli interpositi; Lissencephaly with dysgenesis of the corpus callosum; Dysgenesis of the corpus callosum associated the midline dorsal cyst; Holoprosencephaly, alobar type; Schizencephaly associated with Hydranencephaly; Encephaloclastic porencephaly; Severe hydrocephalus; Variant type of Dandy-Walker cyst with dysgenesis of the corpus callosum; Arnold-Chiari malformation. The patients were initially seen OPD primarily for seizures and other complaints such as nystagmus with visual impairment, hypotonia, facial anomalies, Yolk-sac tumor, prematurity, dyspnea and hydrocephalus. Among these, Holoprosencephaly was easiest to diagnose because it was combined with facial anomalies. However the others required evaluation by CT. CT offers very efficient diagnostic modality which is better than a Cranial Echo. It is also safer than the invasive angiography and not as expensive as MRI.
 ...
PMID:[Congenital anomalies of the brain in computed tomography]. 276 27

The treatment of intracranial arachnoid cysts in controversial regarding its surgical indication and operative procedures. Conventional surgical approaches such as fenestration, membranectomy, and shunting operation are invasive. Also CT cisternography and/or RI cisternography are invasive, when it has been performed to evaluate the possible CSF communications between the arachnoid cyst and subarachnoid space. Between July 1994 and February 1997, 10 patients with intracranial middle fossa arachnoid cysts were treated with a newly developed ventriculofiberscope which is characterized by splendid mechanical flexibility and high resolution. The cine-MRI, which is a non-invasive diagnostic tool, is used to evaluate the CSF circulation around the cyst fenestration. The patients' ages ranged from 4 months to 10 years, with a mean of 4.46 years. The cyst locations were left middle fossa (9), and right (1). Eight patients presented with macrocrania, 4 with developmental delay, three with seizure, two with headache, and one with subdural hematoma. The patients were preoperatively evaluated by means of MRI and cine-MR images. In all patients ventriculofiberscopic procedures including cyst fenestration, membranous dissection, cyst puncture and shrivelling were successfully performed. Postoperative MR and cine-MR studies have shown reduction of the cyst size and appropriate CSF circulation. Neuroendoscopic procedures seem to be the choice for children with arachnoid cysts and the ventriculofiberscope proved to be very useful not only for cyst fenestration but also for cyst dissection. In addition, the non-invasive cine-MR studies are useful for long follow-up at OPD.
 ...
PMID:[Treatment and diagnosis of middle fossa arachnoid cyst: ventriculofiberscopy and cine-MRI]. 966 95

The study was performed to assess the period prevalence of catamenial epilepsy in Thai female epileptic patients. Such a condition is defined as seizures related to menstruation which occur for at least 2 consecutive months within 1 patient during 4 days prior to and/or 6 days after the onset of menstruation. Patients with regular menstruation aged between 15-50 years attending the Out-Patient Department of Prasat Neurological Institute in Bangkok from 1 November, 1995 to 31 January, 1996 were recruited. Patients and/or their relatives were interviewed directly or by telephone using a questionnaire concerning menstrual history, seizures related to menstruation and they were requested to record these data for 2 further consecutive months. In cases where the interview could not be directly performed, a mailed questionnaire was used instead. All information was considered together with information reviewed from the OPD cards. Forty-six from 467 epileptic patients were considered to have catamenial epilepsy. The period prevalence thus was 98.5 in 1,000 women at risk and the mode of frequency of seizure occurrence was 2 days before menstruation. Generalized seizure was found more common in these patients than partial seizure. In particular, general tonic-clonic seizure and complex partial seizure were the most common for each type, respectively. About 70 per cent of the patients used more than 1 anti-convulsant drugs to control their seizures. Some have received other drug supplements to relieve seizure exacerbation but only mild improvement was observed. No change in body weights measured in 2 or 1 day before menstruation, on the first menstrual day and in 1 day after menstruation was demonstrated in all patients. The results suggest that catamenial epilepsy is one of the clinically significant problems of seizure control in Thai female epileptic patients and multifactors may be involved in this condition.
 ...
PMID:The period prevalence of catamenial epilepsy at Prasat Neurological Institute, Bangkok. 991 86

Cysticercosis consists of infection with the small bladder-like larvae of the pork tapeworm Taenia solium. The life cycle of parasite is maintained between man and pig infected with cysticerci. Epilepsy is the most common presentation of neurocysticercosis; focal signs, headache, involuntary movements and global mental deterioration are other symptoms. Psychosis is a rare presentation and may be seen in up to 5% of patients. We present a 25 years old male, who had been under treatment from psychiatry OPD for psychosis for one year, developed generalized tonic-clonic seizures. CT scan of brain revealed multiple calcified and hypodense lesions with surrounding oedema. Histopathological examination of subcutaneous nodule confirmed the diagnosis of neurocysticercosis.
 ...
PMID:Neurocysticercosis presenting with psychosis. 1584 65

We have previously reported that an X-linked recessive form of chronic idiopathic intestinal pseudo-obstruction (CIIPX) maps to Xq28. To select candidate genes for the disease, we analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. We selected and sequenced seven genes and found that one affected male from a large CIIPX-affected kindred bears a 2-bp deletion in exon 2 of the FLNA gene that is present at the heterozygous state in the carrier females of the family. The frameshift mutation is located between two close methionines at the filamin N terminus and is predicted to produce a protein truncated shortly after the first predicted methionine. Loss-of-function FLNA mutations have been associated with X-linked dominant nodular ventricular heterotopia (PVNH), a central nervous system (CNS) migration defect that presents with seizures in females and lethality in males. Notably, the affected male bearing the FLNA deletion had signs of CNS involvement and potentially has PVNH. To understand how the severe frameshift mutation we found can explain the CIIPX phenotype and its X-linked recessive inheritance, we transiently expressed both the wild- type and mutant filamin in cell culture and found that filamin translation can start from either of the two initial methionines in these conditions. Therefore, translation of a normal shorter filamin can occur in vitro from the second methionine downstream of the 2-bp insertion we found. We confirmed this, demonstrating that the filamin protein is present in the patient's lymphoblastoid cell line that shows abnormal cytoskeletal actin organization compared with normal lymphoblasts. We conclude that the filamin N terminal region between the initial two methionines is crucial for proper enteric neuron development.
 ...
PMID:Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 1735 80

This analysis describes the diagnosis and psychiatric treatment modalities of 6 patients (5 women, 1 man; mean age 28.5 years) of acute intermittent porphyria (AIP), who presented to the Psychiatry OPD over a period of one year. The mean number of episodes was 2.83. Premorbid personality traits, clinical presentation, urine colour and urinary porphobilinogen titre were recorded. Among the 6 patients, 4 had abdominal pain, 5 had autonomic instability, all 6 had mental symptoms, 3 had depression, 2 came in delirium, and 3 had an episode of seizure.
 ...
PMID:An analysis of six cases of acute intermittent porphyria (AIP). 2084 51

The present study has been undertaken in a tertiary care centre of North-west India to know the clinical profile of epilepsy and response to drug therapy with special reference to study the effect of reduction of dosage of anti-epileptic drug after a seizure-free interval of two years. A total of 904 patients were selected during the period January, 2001 to October, 2006 who attended OPD clinic of the department of neurology, SMS Medical College and Hospital, Jaipur. Datailed clinical history was taken, general physical examination, routine blood examination, ECG and CT scan along with MRI (brain) in some cases were carried out. Of all the cases, sex ratio (male : female) was 2:1. A high proportion of cases (62.83%) were from low socio-economic group, 41.15% had normal EEG, 532 patients had normal CT scan (out of 800 cases). Single drug therapy was instituted in 71.67% cases. Patients went follow-up for 3 years. Most of the cases proved to be seizure-free after 2 years. Average maintenance dosage in patients on monotherapy can be reduced after a seizure-free interval of 2 years.
 ...
PMID:Clinical profile of epilepsy, in a tertiary care centre of North-west India. 2188 53

Periventricular nodular heterotopia (PH) is a human brain malformation caused by defective neuronal migration that results in ectopic neuronal nodules lining the lateral ventricles beneath a normal appearing cortex. Most affected patients have seizures and their cognitive level varies from normal to severely impaired. Mutations in the Filamin-A (or FLNA) gene are the main cause of PH, but the underlying pathological mechanism remains unknown. Although two FlnA knockout mouse strains have been generated, none of them showed the presence of ectopic nodules. To recapitulate the loss of FlnA function in the developing rat brain, we used an in utero RNA interference-mediated knockdown approach and successfully reproduced a PH phenotype in rats comparable with that observed in human patients. In FlnA-knockdown rats, we report that PH results from a disruption of the polarized radial glial scaffold in the ventricular zone altering progression of neural progenitors through the cell cycle and impairing migration of neurons into the cortical plate. Similar alterations of radial glia are observed in human PH brains of a 35-week fetus and a 3-month-old child, harboring distinct FLNA mutations not previously reported. Finally, juvenile FlnA-knockdown rats are highly susceptible to seizures, confirming the reliability of this novel animal model of PH. Our findings suggest that the disorganization of radial glia is the leading cause of PH pathogenesis associated with FLNA mutations. Rattus norvegicus FlnA mRNA (GenBank accession number FJ416060).
 ...
PMID:A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. 2207 41

Seizures are frequent in patients over 60 years. Often, there is an underlying causative disorder, which aids in the treatment of these patients. To study the aetiological profile of seizures in patients aged 60 years and above, 100 elderly patients with seizures, attending medicine or neurology OPD or admitted under these departments for seizures were studied. A complete history and detailed examination followed by biochemical, haematological, serological tests and neuro-imaging were obtained. Additional studies including cerebrospinal fluid analysis, and toxicology tests were done as and when indicated. There was no gender difference noted in the type or in the aetiology of the seizures. Stroke (31%) was the most common cause of seizures, followed by metabolic derangements (19%). In 24% of the patients, no cause could be found. Infection caused seizures in a significant number of patients when compared to other studies in the literature. Generalised tonic clonic seizure was the most common type of seizure, again a finding differing from many previous studies. The fact that the population size was smaller and the majority of the patients were in the "younger elderly" ie, age group of < 75 years could have contributed to the differing result. The commonest aetiology of seizure in the elderly was found to be cerebrovascular accident and a significant number of patients were found to have an infectious cause for their seizures.
 ...
PMID:Aetiology of seizures in elderly. 2496 98

Presenting a case of 27-year-old female presented in our OPD on 6-12-2013 with severe headache and vomiting and no history of LOC/seizure. There was H/O head trauma 2 month back. O/E pupil of normal size and normal reaction to light and neurological status with GCS-14. CT scan showed a hyperdense left frontal chronic extradural/subdural mass lesion and midline shift of 8 mm. Peroperative there was intradural lesion as nonvascular, greyish white gelatinous solid tissue without evidence of EDH. The lesion was completely excised, and the skull the bone flap was replaced. Uneventful post operative recovery with GCS-15. Histopathological report was plasmacytoma.
...
PMID:Intracranial plasmacytomas mimicking epidural hematoma and revealed by head trauma. 2688 92


1