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)

Sodium valproate (Epilim) has been used in the management of 100 patients with previously uncontrolled epilepsy for periods up to 2 years. If all manifestations of epilepsy are considered together, 75% to 100% control of seizures was achieved in 43% of patients, 25% to 74% control in 26%, and no improvement occurred in 31% of patients. Control of 75% to 100% was achieved in 57% of patients with a spike and wave electroencephalogram (EEG) disturbance but only in 35% of those with focal abnormalities, excessive slow activity, or normal records. When the various manifestations of epilepsy were considered individually, the greatest improvement was found among the patients with the minor forms of generalized epilepsy (petit mal absences, myoclonus and atonic attacks) in whom 75% to 100% control was obtained in 67%, compared with 43% of those with major generalized seizures (grand mal) and 30% of those with temporal lobe attacks and other forms of focal epilepsy. Gastrointestinal disturbances and drowsiness were noted as side effects in the early stages of treatment, but the majority of patients tolerated the drug well and many commented on increased mental alertness while taking it. Two patients were over-stimulated and some noticed tremor or twitching as side effects. Some minor abnormalities in blood coagulation studies were noted, but these were transient and did not appear to be of clinical significance. Regular blood counts and biochemical studies have not shown any significant changes. Sodium valproate appears to be a safe and useful anticonvulsant with the advantage that it usually makes patients brighter rather than drowsier. Abnormalities of platelet function have been described in some overseas reports, so that any unexplained bruising or bleeding in a patient taking valproate is an indication for a platelet count and coagulation studies.
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PMID:The anticonvulsant action of sodium valproate (Epilim) in 100 patients with various forms of epilepsy. 40 31

The behavioral and electrographic effects of chronic (7 days), localized infusion of GABA (100 micrograms/microliter) into the somatomotor cortex of fully amygdala-kindled rats is reported. The animals were stimulated once daily until a stage 5 (generalized clonic seizure) was obtained for five consecutive days. After determination of a stable seizure triggering threshold, the rats were implanted with osmotic minipumps (1 microliter/h for 7 days) connected to previously implanted bilateral cannulae. Amygdala stimulation was continued for 14 successive days. GABA infusion reduced the motor seizure without significantly modifying the limbic afterdischarge. This effect lasted until termination of drug application, with recovery of stage 5 convulsions on the following 3 to 5 days. No effects were observed in saline-infused animals or in rats with unilateral GABA treatment. Upon cessation of GABA treatment (removal of the osmotic devices by day 7 postimplantation), spontaneous epileptic discharges localized to the infusion sites appeared. In some animals, the abnormal activity was accompanied by behavioral signs of myoclonus. This cortical hyperexcitability lasted 2 to 24 h, with complete recovery afterward. These data indicate that two types of focal epilepsy may coexist independently in the same animal and provide confirmation of previous observations in the monkey on the existence of a "GABA-withdrawal syndrome" after chronic, focal infusion of the amino acid.
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PMID:Anticonvulsant effect of intracortical, chronic infusion of GABA in kindled rats: focal seizures upon withdrawal. 365 26

Mutant epileptic E1 mice are thought to have focal epilepsy of hippocampal origin because glucose utilization is increased in the hippocampus (HPC) during seizures in these mice. However, direct electrographic evidence is still lacking for the notion. We recorded electroencephalograms (EEGs) using depth electrodes in E1 and non-epileptic ddY mice. All the mice were subjected to a conventional seizure-provoking maneuver during EEG recording; each mouse was placed on a mesh floor and observed for 3 min, and then tossed up in the air. When the E1 mice showed signs of abortive seizures or prodromal symptoms including squeaking, running and myoclonus, sporadic spikes or sharp waves were generated exclusively in the HPC. When generalized convulsions followed these prodromes, the sporadic discharges evolved into a burst of generalized spikes which again predominated in the HPC. We also observed the cerebral cortex, amygdaloid, caudate, centro-median thalamic and ventral postero-lateral thalamic nuclei, all of which were found to be only secondarily involved. These findings provide the first electrical evidence that E1 mice have a secondarily generalized seizure that has its initiating focus in the HPC.
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PMID:Depth EEG in mutant epileptic E1 mice: demonstration of secondary generalization of the seizure from the hippocampus. 768 Sep 97

In the context of a study of the effects of gamma-vinyl-GABA (GVG) on seizure occurrence and on EEG abnormalities we present three cases with focal epilepsy in which new clinical and EEG paroxysmal manifestations were observed during GVG therapy. At that time, whereas an amelioration or no change in patients' habitual seizures were observed, myoclonic jerks appeared with related changes in the EEG paroxysmal abnormalities, represented by generalized polyspike and wave complexes. An electroclinical correlation was recorded in one case. These data indicate that, although occurring rarely, it is possible to have epileptic myoclonus during GVG treatment. Mechanisms underlying these manifestations are difficult to explain. Probably a shift in the anti/proconvulsant GABAergic balance towards the latter may compromise the therapeutic effect of GVG.
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PMID:Development of myoclonus in patients with partial epilepsy during treatment with vigabatrin: an electroencephalographic study. 773 67

Motor cortex excitability was analyzed with transcranial stimulation in a patient with motor focal epilepsy and cortical myoclonus originating from the right motor cortex. The motor threshold to single transcranial magnetic shocks, but not to electric stimuli, was higher in the epileptic motor cortex than the normal left motor cortex. Single magnetic shocks elicited a short cortical silent period (50 ms) in the epileptic motor cortex. Paired magnetic stimuli also showed reduced cortico-cortical inhibition. These findings reveal an asymmetry in cortical excitability presumably due to impaired inhibition in the epileptic motor cortex.
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PMID:Asymmetry of cortical excitability revealed by transcranial stimulation in a patient with focal motor epilepsy and cortical myoclonus. 1100 66

Although epileptic photosensitivity is well known, its genetics and syndromic associations are incompletely understood. Seizures triggered by photic stimulation are usually a manifestation of the idiopathic generalized epilepsies, especially juvenile myoclonic epilepsy (JME), or of the occipital epilepsies. Idiopathic photosensitive occipital epilepsy (IPOE) is a focal epilepsy with colourful elementary visual auras, often with conscious tonic head and eye version; myoclonus is not a feature. All seizures are induced by photic stimuli. We describe four families with phenotypic overlap between JME and IPOE. Families were identified if two or more affected individuals had visual auras and electro-clinical features of an idiopathic epilepsy. Family members underwent detailed electro-clinical assessment. In addition, 40 unrelated JME probands were investigated systematically for unrecognized features of IPOE (visual aura and conscious head version). There were 12 affected individuals in four families; 11 were female. Clinical onset was at 8-21 years of age. Of 10 patients with visual auras, six had conscious head version and five also experienced myoclonic jerks; eight had non-photic induced tonic-clonic seizures (TCS). Of the remaining individuals, one had myoclonic jerks and occipital spikes; the other had TCS without visual aura or myoclonic jerks. Of 10 patients with EEG studies, eight had generalized spike and wave (GSW) and six had occipital spikes. All had photosensitivity with GSW and four had additional occipital spikes. Of the 40 JME probands, six had visual aura and/or conscious head version; five of these were photosensitive. There is overlap between the clusters of clinical features used to diagnose IPOE and JME. Half of the affected individuals in our families with visual aura had myoclonic jerks; the former is characteristic of IPOE and the latter of JME. Importantly, visual aura is not regarded as part of JME, nor myoclonus part of IPOE, but our data emphasize that these symptoms may occur in both disorders. Moreover, two-thirds of individuals with visual aura had spontaneous TCS; the latter feature is not described in IPOE. Additionally, we demonstrate that visual aura and conscious head version are under-recognized features of JME, particularly among photosensitive patients. These findings could be explained by shared genetic determinants underlying IPOE and JME. Understanding the genetic basis of these disorders must account for the striking female predominance, the variable phenotypes associated with photosensitivity and the overlap of clinical features classically regarded as distinguishing focal and generalized syndromes.
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PMID:Juvenile myoclonic epilepsy and idiopathic photosensitive occipital lobe epilepsy: is there overlap? 1520 Nov 94

The epilepsies are among the most common serious brain disorders, can occur at all ages, and are characterized by a variety of presentations and causes. Diagnosis of epilepsy remains clinical, and neurophysiological investigations support the diagnosis of the syndrome. Brain imaging is able to identify many of the structural causes of the epilepsies. Current antiepileptic drugs (AEDs) block seizures without influencing the underlying tendency to generate seizures, and are effective in 60-70% of individuals. Several modern drugs are as efficacious as the older medications, but have important advantages including the absence of adverse drug interactions and hypersensitivity reactions. Epilepsy is associated with an increased prevalence of mental health disorders including anxiety, depression, and suicidal thoughts. An understanding of the psychiatric correlates of epilepsy is important to the adequate management of people with epilepsy. Anticipation of common errors in the diagnosis and management of epilepsy is important. Frequent early diagnostic errors include nonepileptic psychogenic seizures, syncope with myoclonus, restless legs syndrome, and REM behavioral disorders, the last mostly in elderly men. Overtreatment with too rapid titration and too high doses or too many AEDs should be avoided. For people with refractory focal epilepsy, vagus nerve stimulation offers palliative treatment with possible mood improvement and neurosurgical resection offers the possibility of a life-changing cure. Potential advances in the management of epilepsy are briefly discussed. This short review summarizes the authors' how-to-do approach to the modern management of people with epilepsy.
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PMID:Modern management of epilepsy: a practical approach. 1831 96

We present a patient with cryptogenic focal epilepsy and another with Dravet syndrome, who experienced seizure aggravation and negative myoclonus, associated with continuous spikes and waves during slow sleep, induced by levetiracetam. For both patients levetiracetam was discontinued, and there was significant improvement of this particular electroclinical picture.
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PMID:Levetiracetam-induced seizure aggravation associated with continuous spikes and waves during slow sleep in children with refractory epilepsies. 2048 15

A wide range of clinical presentations including neuromuscular disorders and autoimmune encephalopathies is being recognized to be associated with various autoantibodies. Glycine receptor (GlyR) antibodies have so far been found mainly in adult patients with phenotypes comprising progressive encephalomyelitis with rigidity and myoclonus or stiff-person syndrome. We report a four-year-old boy who presented with a two-year-history of drug-resistant focal epilepsy with unusual seizure semiology, temper tantrums, headache, clumsiness, and intermittently impaired speech. While MRI and CSF were normal, screening for autoimmune antibodies revealed GlyR antibodies in serum. Immunomodulatory treatment with steroids resulted in rapid and complete resolution of symptoms. Our observation widens the spectrum of clinical presentations associated with GlyR antibodies and emphasizes the potential relevance of neuronal autoantibodies in epilepsies of unknown cause in children as well as in adults.
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PMID:Glycine receptor antibodies in a boy with focal epilepsy and episodic behavioral disorder. 2488 May 41

Lacosamide is a new-generation antiseizure medication that is approved for use as an adjunctive treatment and monotherapy in focal epilepsy. Its use in generalized epilepsy, however, has not been adequately evaluated in controlled trials. We report a 67-year-old woman who experienced new-onset myoclonic seizures after initiation of lacosamide. We presume that she had an undiagnosed generalized epilepsy syndrome, likely juvenile myoclonic epilepsy. Myoclonic seizures were not reported before introducing lacosamide and completely resolved after lacosamide was discontinued. This suggests that lacosamide may have the potential to worsen myoclonus, similar to what has been reported with another sodium channel agent, lamotrigine, in some individuals with genetic generalized epilepsy (GGE).
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PMID:Unmasking of myoclonus by lacosamide in generalized epilepsy. 2823 47


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