Rosenbaum epilepsy

Reports have suggested an association of juvenile myoclonic epilepsy (JME) with an HLA-DR allele. We examined the HLA-DR and DQ frequencies in two populations of epilepsy patients: (1) JME patients and (2) patients with other forms of adolescent-onset, idiopathic generalized epilepsy (IGE). We did DNA-based HLA typing on 24 JME patients and 24 patients with non-JME forms of adolescent-onset IGE, forms that are clinically similar to JME. In typing the HLA region, we paid particular attention to the alleles contributing to the HLA-DR13 type and also to the DQB1 locus alleles that are in linkage disequilibrium with the alleles that comprise the DR13 type...

Both linkage and association studies provide strong evidence that a gene locus on chromosome 6 is involved in the expression of juvenile myoclonic epilepsy (JME), an adolescent-onset form of primary idiopathic generalized epilepsy (IGE). This epilepsy-related gene locus, designated EJM-1, may also influence the expression of other forms of IGE. We report here evidence that at least one form of epilepsy that is similar to JME--pure, adolescent-onset grand mal epilepsy in which the seizures occur at any time during waking--is not linked to the EJM-1 locus...

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No abstract text is available yet for this article.

Lorazepam is a new member of a constantly growing benzodiazepine family. It has been demonstrated to be an effective anxiolytic agent, but as with use of other drugs of this nature, tolerance and dependence may occur. These unwanted effects can constitute a serious clinical problem. We report on two patients with grand mal seizures, which were thought to be secondary to abrupt withdrawal of lorazepam. Because these types of agents are the most widely used drugs in medical practice, their potential risks must be emphasized...

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We evaluated daytime (6- to 8-hour) intensive monitoring in a consecutive series of 166 studies. Overall success rate in answering clinical questions posed by referring physicians was 67%, and attacks were recorded in 55%. Daytime intensive monitoring provides a useful, cost-effective alternative to prolonged inpatient monitoring and ambulatory monitoring.

We document a case of isolated epileptic aphasia with clear correlation between episodic clinical and electrographic events. This disorder is rarely recognized, perhaps because it is obscured by ictal motor activity or speech arrest, or by the lack of clinical manifestations if the seizure occurs when the patient is not attempting to speak.

Clonazepam, a high-potency benzodiazepine marketed for the treatment of minor motor epilepsy, was used to treat 50 patients with panic disorder (N = 22) or agoraphobia with panic attacks (N = 28). Of the 50 patients, 41 had previously been poorly responsive to standard pharmacologic therapies. At a mean dose of only 1.9 (+/- 1.0) mg/day, 39 patients (78%) responded. No serious adverse effects were encountered. This study, although retrospective and uncontrolled, suggests that clonazepam, like alprazolam, may be effective in blocking panic attacks...

We studied a man with repeated seizures characterized by deviation of the head and eyes to the left. A right occipital focus was demonstrated in the EEG. Adversion is usually associated with frontal or temporal lobe seizures; the direction of adversion is equally likely to be ipsilateral as contralateral to the ictal focus. In all reports of occipital epilepsy, the ictal focus has been contralateral to the direction of head turning.

Neurochemical studies in animal models of epilepsy have demonstrated the importance of multiple neurotransmitters and their receptors in mediating seizures. The role of opiate receptors and endogenous opioid peptides in seizure mechanisms is well developed and is the basis for measuring opiate receptors in patients with epilepsy. Patients with complex partial seizures due to unilateral temporal seizure foci were studied by positron emission tomography using 11C-carfentanil to measure mu-opiate receptors and 18F-fluoro-deoxy-D-glucose to measure glucose utilization...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Biochemical studies of serotonin metabolism and a therapeutic trial of L-5-hydroxytryptophan (L-5-HTP) in combination with carbidopa were carried out in 19 patients with myoclonus. In 6 patients with intention myoclonus, the cerebrospinal fluid concentration of 5-hydroxyindoleacetic acid, a metabolite of serotonin was found to be significantly decreased. L-5-HTP with carbidopa dramatically decreased the frequency and intensity of myoclonus, particularly in those patients with a diagnosis of postanoxic intention myoclonus...

Abnormal genitalia was a salient clinical finding in two unrelated male infants with the hydantoin embryopathy syndrome. Both infants also exhibited hypoplastic nails of fingers and toes, hypertelorism, and a flat nasal bridge, and one had severe developmental retardation. We review previously reported cases of the hydantoin embrypathy syndrome and discuss factors possibly affecting the teratogenicity of phenytoin. Male infants with findings such as the patients of this report need to be differentiated from patients with Noonan syndrome and Aarskog syndrome...

We evaluated the therapeutic effect of L-5-hydroxytryptophan (L-5HTP), the precursor of serotonin (5-hydroxytryptamine), combined with carbidopa, a peripheral decarboxylase inhibitor, in patients with intention myoclonus and examined the serotonin metabolites in spinal fluid, blood and urine before and during therapy. In 18 patients with intention myoclonus due to anoxia or other brain damage, 11 derived more than 50% overall improvement during treatment with L-5HTP and carbidopa. Spinal-fluid 5-hydroxyindoleacetic acid was 35% lower in patients with intention myoclonus than in controls (P less than 0...