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)

Headache originating front-orbital area can be divided to (1) Which has no autonomic symptoms such as lacrimation, rhinorrea, rhinostasis. This include psychogenic headache and epileptic headache. In the case of psychogenic headache, pericranial tenderness is not observed, and headache is medium in intensity. Most often patient complains of a headache originating frontal area. There are more than five various symptoms such as general malaise, numbness, tingling sensation, vertigo, sleeplessness. However, although symptoms are multiple, patients spend a life commonly. In other words, a patient is protected by a headache against his or her stress. No medication is needed in such a case. In epileptic headache, pressing type pain is felt over the forehead for several minutes to a few hours. Tremor or convulsion sometimes follow the headache. EEG shows spike and wave activities. In the case of focal epilepsy, headache occurs contralateral to the focus. Anti-epileptic drugs such as VPA or CBZ is a choice in such case, and headache as well as seizure disappears. (2) Front-orbital headache with autonomic symptoms include various trigeminal autonomic cephalalgias. These include cluster headache, episodic paroxysmal hemicrania, hemicrania continua, among others. Precise history taking is necessary for the treatment, because no drug is 100% effective.
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PMID:[Headache originating front-orbital area]. 1565 1

Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q in various families. The aim of this study was to identify the responsible locus in four unrelated Dutch families with BFIC. Two of the tested families had pure BFIC; in one family, affected individuals had BFIC followed by paroxysmal kinesigenic dyskinesias at later age, and in one family, BFIC was accompanied by later-onset focal epilepsy in older generations. Linkage analysis was performed for the known loci on chromosomes 1q23, 2q24, 16p12-q12, and 19q. The two families with pure BFIC were linked to chromosome 16p12-q12. Using recombinants from these and other published families, the chromosome 16-candidate gene region was reduced from 21.4 Mb (4.3 cm) to 2.7 Mb (0.0 cm). For the other two families, linkage to any of the known loci was unlikely. In conclusion, we confirm the linkage of pure BFIC to chromosome 16p12-q12, with further refinement of the locus. Furthermore, the lack of involvement of the known loci in two of the families indicates further genetic heterogeneity for BFIC.
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PMID:Refinement of the chromosome 16 locus for benign familial infantile convulsions. 1585 19

Hemiconvulsions-hemiplegia-epilepsy syndrome (HH/HHE) is a rare epileptic syndrome consisting of a prolonged unilateral convulsion producing a persisting hemiplegia, sometimes followed by epilepsy. We report on a 13-month-old male who presented with febrile left-sided HH syndrome with right hemispheric unilateral cytotoxic oedema followed by hemispheric atrophy on magnetic resonance imaging (MRI). Six months later the child progressively developed refractory focal epilepsy, including right hemiclonic seizures, and nearly continuous left frontal rhythmic spikes, suggesting the presence of a focal cortical dysplasia (FCD). A repeat MRI at 2 years of age showed left frontal FCD. This unusual case of dual pathology--right HH syndrome and left FCD--suggests that some other factor than the malformation determined the prolonged status and brain atrophy. The kinetics of regional cortical maturation could explain this unusual condition.
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PMID:Atypical case of hemiconvulsions-hemiplegia-epilepsy syndrome revealing contralateral focal cortical dysplasia. 1628 74

There is currently increasing interest in identifying and classifying pediatric benign epilepsy syndromes and recently several new syndromes have been recognized. Benign epilepsy syndromes, by definition, occur in children with normal developmental history, respond well to therapy, and remit without sequelae. The large majority of children with benign epilepsy syndromes follow a truly benign course. The concept of benign epilepsy syndromes has, however, been challenged by the minority of patients who continue to have seizures despite therapy, develop new seizures after initial remission, or exhibit neuropsychological abnormalities. Without long-term follow-up, benignity can not be truly ascertained a priori. Thus it may be preferable to use the terms possible and probable before the name of a specific syndrome until such time that the diagnosis of a definite benign syndrome is confirmed on long-term follow-up. In this review of the pediatric benign localization-related epilepsy syndromes, we address the concept of benignity and the process of diagnosis of a benign epilepsy syndrome. In addition we review the epidemiology, clinical manifestations, EEG findings, work-up, diagnostic criteria, differential diagnosis, genetics, management and prognosis of benign infantile familial convulsions, benign partial epilepsy in infancy with complex partial seizures, benign partial epilepsy in infancy with secondarily generalized seizures, benign infantile convulsions associated with mild gastroenteritis, and benign infantile focal epilepsy with midline spikes and waves during sleep.
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PMID:Benign pediatric localization-related epilepsies. Part I. Syndromes in infancy. 1698 37

Transmeningeal drug delivery, using an implanted hybrid neuroprosthesis, has been proposed as a novel therapy for intractable focal epilepsy. As part of a systematic effort to identify the optimal compounds and protocols for such a therapy, this study aimed to determine whether transmeningeal gamma-aminobutyric acid (GABA) delivery can terminate and/or prevent neocortical seizures in rats. Rats were chronically implanted with an epidural cup and an adjacent EEG electrode in the right parietal cortex. While the rat was behaving freely, a seizure-inducing concentration of acetylcholine (Ach) was applied into the cup. In a seizure termination study, either artificial cerebrospinal fluid (ACSF) or GABA (0.25, 2.5, 25 or 50mM) was delivered into the exposed neocortical area during an ongoing seizure. In a seizure prevention study, either ACSF or 50mM GABA was delivered into the epidural cup before the application of Ach. Epidural delivery of 50mM GABA completely terminated ongoing Ach-induced EEG seizures and convulsions within 17-437s after its delivery. ACSF and lower concentrations of GABA did not produce this effect, but 25mM GABA reduced seizure severity. However, the used GABA concentration could not prevent the development, or affect the severity, of Ach-induced EEG seizures and convulsions. This study indicates that transmeningeal GABA delivery can be used for terminating neocortical seizures, but to achieve seizure prevention via this route either a more efficient GABA delivery method needs to be developed or other neurotransmitters/pharmaceuticals should be employed for this purpose.
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PMID:Transmeningeal delivery of GABA to control neocortical seizures in rats. 1747 79

We present a case of an 8-year-old girl with established focal epilepsy, whose fits resolved permanently after excision of a carotid body paraganglioma.
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PMID:Cessation of epilepsy in an 8-year-old girl following removal of carotid body paraganglioma. 1882 82

The antiepileptic activity of oral frusemide (120 mg daily) was compared with that of an identical placebo in a double-blind crossover trial in fourteen patients with severe focal epilepsy who were receiving long-term therapy with established antiepileptic drugs. A statistically significant reduction in the frequency of focal fits was seen with the active drug. Marked drowsiness occurred in three patients during frusemide therapy, causing their withdrawal from the trial. A slight, but significant, rise in serum phenobarbitone concentrations was observed during frusemide therapy, but no change was seen in serum primidone or phenytoin concentrations. Frusemide significantly lowered plasma sodium and potassium concentrations, and increased plasma bicarbonate.
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PMID:Controlled trial of frusemide as an antiepileptic drug in focal epilepsy. 2221 4

We present the case of a 36 year-old woman, with history of transient consciousness disorders with vegetative state, interpreted as epileptic crises and treated with valproate for two years. After nine asymptomatic years, they reappeared associated with migraine, vomiting and some generalized convulsions. Electroencephalogram and cerebral magnetic resonance turned out normal, and treatment with zonisamide was started, without beneficial results. Later cardiological studies objectified a blockage of the left branch that coincided with dizziness. The study was completed with Video-EGG monitoring, where there was an episode that showed temporary right epileptiform activity, with a diagnosis established of focal epilepsy of unknown cause. At present, she remains asymptomatic with oxycarbazepine.
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PMID:[Video-EEG monitoring and simultaneous ECG for the differential diagnosis of transient consciousness disorders. A case report]. 2255 40

The spontaneously epileptic rat (SER) is a double mutant (zi/zi, tm/tm) which begins to exhibit tonic convulsions and absence seizures after 6 weeks of age, and repetitive tonic seizures over time induce sclerosis-like changes in SER hippocampus with high brain-derived neurotrophic factor (BDNF) expression. Levetiracetam, which binds to synaptic vesicle protein 2A (SV2A), inhibited both tonic convulsions and absence seizures in SERs. We studied SER brains histologically and immunohistochemically after verification by electroencephalography (EEG), as SERs exhibit seizure-related alterations in the cerebral cortex and hippocampus. SERs did not show interictal abnormal spikes and slow waves typical of focal epilepsy or symptomatic generalized epilepsy. The difference in neuronal density of the cerebral cortex was insignificant between SER and Wistar rats, and apoptotic neurons did not appear in SERs. BDNF distributions portrayed higher values in the entorhinal and piriform cortices which would relate with hippocampal sclerosis-like changes. Similar synaptophysin expression in the cerebral cortex and hippocampus was found in both animals. Low and diffuse SV2A distribution portrayed in the cerebral cortex and hippocampus of SERs was significantly less than that of all cerebral lobes and inner molecular layer (IML) of the dentate gyrus (DG) of Wistar rats. The extent of low SV2A expression/distribution in SERs was particularly remarkable in the frontal (51% of control) and entorhinal cortices (47%). Lower synaptotagmin-1 expression (vs Wistar rats) was located in the frontal (31%), piriform (13%) and entorhinal (39%) cortices, and IML of the DG (38%) in SER. Focal low distribution of synaptotagmin-1 accompanying low SV2A expression may contribute to epileptogenesis and seizure propagation in SER.
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PMID:Low distribution of synaptic vesicle protein 2A and synaptotagimin-1 in the cerebral cortex and hippocampus of spontaneously epileptic rats exhibiting both tonic convulsion and absence seizure. 2276 34

We report the case of a 10-year-old child from Reunion Island who was hospitalized because of headaches and partial convulsive fits. The brain MRI showed several conglomerated right frontal lesions suggestive of a tumor process. This girl, vaccinated with BCG, had familial risk factors for tuberculosis and a 20-mm tuberculin intradermo-reaction. Given the palpation of an abdominal mass, a thoracoabdominal scan was done, which revealed the presence of mesenteric adenopathies. Their biopsy confirmed the diagnosis of tuberculosis without having to perform neurosurgery. A 2-month quadritherapy and a 10-month dual therapy against tuberculosis led to the disappearance of brain damage and mesenteric adenopathies, with focal epilepsy the only sequela. The tuberculosis incidence in Reunion Island (8/100,000) is comparable with the French average, but the island is surrounded by high-endemic countries. Tuberculomas were responsible for one-third of expanding intracranial lesions in Europe in 1933, and their incidence remains high in developing countries. Even though extrapulmonary or disseminated tuberculosis has become rare in children in industrialized countries, this diagnosis must be kept in mind, in spite of vaccination. In accordance with international guidelines, this case report shows the importance of a systematic extensive check-up (cervical, thoracic and abdominopelvic) when brain tuberculosis is suspected in order to find more accessible tuberculosis lesions and to avoid the side effects of a brain biopsy.
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PMID:[Brain tuberculoma in a 10-year-old child: the diagnosis is in the belly]. 2279 87


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