Phenytoin-like hypersensitivity associated with lamotrigine.
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Adult↗
Biomedical subjects
S Resor
Publications and source records attributed to S Resor.
Association of HLA class II alleles in patients with juvenile myoclonic epilepsy compared with patients with other forms of adolescent-onset generalized 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. We also examined the HLA-AP locus, which is centromeric to the DR locus. The frequency of DR13 was significantly higher in JME compared with the non-JME patients. Nine JME patients, compared with two non-JME patients, carried that type (chi 2 = 5.78 [p < 0.017, 1 df]). The odds ratio was 6.6. Furthermore, the DQB1 alleles in linkage disequilibrium with the alleles contributing to the DR13 type were also more frequent in JME than in non-JME epilepsy patients. The chi 2 is highly significant (8.1, p < 0.005) with an odds ratio of 13.8. These results confirm that JME is an HLA-associated form of epilepsy. They also show that the JME locus probably lies within the HLA region, most likely between the HLA-DP and HLA-B loci. The association studies also confirm linkage results showing that JME is genetically different from some other IGEs and emphasize that careful diagnosis is critical to genetic studies of the epilepsies.
Adolescent↗
The genetics of idiopathic generalized epilepsies of adolescent onset: differences between juvenile myoclonic epilepsy and epilepsy with random grand mal and with awakening grand mal.
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. However, we also have evidence that another form of pure, adolescent-onset grand mal that occurs on awakening is linked to the EJM-1 locus and may be genetically the same as JME. This work suggests that clinically similar epileptic syndromes may have different genetic bases and underscores the critical importance of careful clinical observations in studying the genetics of the epilepsies.
Adolescent↗
The source of 'paradoxical lateralization' of cortical evoked potentials to posterior tibial nerve stimulation.
We report the potentials elicited by posterior tibial nerve stimulation and recorded simultaneously from the scalp and from electrodes within the interhemispheric fissure. The primary cortical potential was recorded from cortex contralateral but from scalp ipsilateral to the stimulated nerve. The scalp recordings thus demonstrated "paradoxical lateralization" as reported previously, and the similar morphology of the scalp and contralateral cortical recordings confirm that this "paradoxical lateralization" is most likely the result of a horizontal dipole located within the interhemispheric fissure.
Adolescent↗
Basal temporal language area demonstrated by electrical stimulation.
We report on a 38-year-old patient with intractable complex partial seizures originating in the dominant left medial temporal region. In the work-up for seizure surgery, arrays of subdural electrodes were placed, and electrical stimulation revealed marked language interference in a 2 X 2-cm area in the left basal temporal fusiform gyrus (3.5 to 5.5 cm posterior to the temporal tip). Complete receptive and expressive aphasia, inability to repeat, agraphia, and alexia were elicited, but visual memory was preserved, and no constructional apraxia was noted. Stimulation of the basal temporal gyrus at lower stimulus intensities produced a relatively selective and severe anomia.
Adult↗
Other reports of pilomotor seizures.
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Adult↗
Presumably Azorean disease in a presumably non-Portuguese family.
Autosomal dominant motor system degeneration (ADMSD) is a hereditary ataxia that has been reported previously only in Portuguese families from the Azores Islands. Cerebellar ataxia, pyramidal and extrapyramidal signs, amyotrophy, dystonia, abnormal eye movements, and prominent eyes are variably present. Four members of a family had cerebellar ataxia, dystonic posturing, a variety of abnormal eye movements, and prominent eyes resulting from lid retraction. Eight other family members had a similar disease. The combination of cerebellar ataxia, dystonia, abnormal eye movements, and prominent eyes has been reported only in ADMSD. The family reported here may be the first example of ADMSD in a non-Portuguese family.
Adult↗
Lumbar spinal abscess managed conservatively. Case report.
The authors report the case of a patient with spinal abscess in whom operation was withheld because of severe concomitant medical problems. Conservative management resulted in apparent cure.
Abscess↗