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

Of 27 patients with hypoplastic anemia treated between 1971 and 1974 with male hormone and protein-assimilating hormone, 3 developed superior sagittal sinus thrombosis (SSST). The clinical symptoms and signs and angiographic findings of SST were characteristic enough to allow an early diagnosis. Signs related to SST were seizures, hemiplegia, facial palsy, stupor, and coma, with the most important prodrome and consistent subjective complaint being headache. Following discontinuation of the hormone therapy, neurological signs and symptoms related to SSST gradually subsided. In all cases, the hematological picture improved with discontinuation of the hormone therapies. It appears that administration of male hormone can be associated with the development of SSST. If neurological symptoms and signs of SSST appear, administration of the hormones should be discontinued.
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PMID:Superior sagittal sinus thrombosis associated with androgen therapy for hypoplastic anemia. 715 62

Somatostatin-14 (SRIF-14) exerts anticonvulsive effects in several rat seizure models, generally attributed to sst(2) receptor activation. Whereas sst(1) immunoreactivity has been localized to both polymorphic interneurons and principal cells in the rat hippocampus, its potential role as an inhibitory autoreceptor or as a receptor involved in mediating anticonvulsive actions remains unknown. We showed that intrahippocampal administration of the sst(1) antagonist SRA880 (1 microM) induced a robust increase in hippocampal SST-14 levels without affecting gamma-aminobutyric acid levels in conscious rats, indicating that the sst(1) receptor acts as an inhibitory autoreceptor. SRA880 did not affect seizure severity and did not reverse the anticonvulsive action of SRIF-14 (1 microM) against pilocarpine-induced seizures, suggesting that hippocampal sst(1) receptors are not involved in the anticonvulsive effects of SRIF-14.
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PMID:Hippocampal sst(1) receptors are autoreceptors and do not affect seizures in rats. 2013 57

Superior sagittal sinus thrombosis (SSST) is a rare complication of non-penetrating brain injuries. However, this is not an uncommon event in those patients who have suffered a gun shot wound (GSW) to the head. Disturbances in blood flow, lead to development of SST, endothelial injury and clotting abnormalities. Complications include increased weakness, mental status changes, seizures and potential mortality. The purpose of this paper is to illustrate three cases of SSST and the need to be alert for this entity. Our cases involve three young female patients each of whom suffered a GSW to the head, with resultant severe brain injury. In each case, severe disability ensued and imaging studies revealed the presence of the superior sagittal sinus syndrome. The cases demonstrate three different presentations and time courses of this entity, along with the appropriate treatment choices. This condition may appear in the immediate post-injury period, in the post-acute rehabilitation period or even at distant follow-up; therefore, patients with TBI secondary to GSW need to be monitored for an extended time interval for clinical signs which may be indicative of SSST.
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PMID:Superior sagittal sinus thrombosis: a complication of gunshot wound injuries to the brain. 2452 17

Loss of function mutations in the SCN1A gene, which encodes the voltage-gated sodium channel Nav1.1, have been described in the majority of Dravet syndrome patients presenting with epileptic seizures, hyperactivity, autistic traits, and cognitive decline. We previously reported predominant Nav1.1 expression in parvalbumin-expressing (PV+) inhibitory neurons in juvenile mouse brain and observed epileptic seizures in mice with selective deletion of Scn1a in PV+ cells mediated by PV-Cre transgene expression (Scn1afl/+/PV-Cre-TG). Here we investigate the behavior of Scn1afl/+/PV-Cre-TG mice using a comprehensive battery of behavioral tests. We observed that Scn1afl/+/PV-Cre-TG mice display hyperactive behavior, impaired social novelty recognition, and altered spatial memory. We also generated Scn1afl/+/SST-Cre-KI mice with a selective Scn1a deletion in somatostatin-expressing (SST+) inhibitory neurons using an SST-IRES-Cre knock-in driver line. We observed that Scn1afl/+/SST-Cre-KI mice display no spontaneous convulsive seizures and that Scn1afl/+/SST-Cre-KI mice have a lowered threshold temperature for hyperthermia-induced seizures, although their threshold values are much higher than those of Scn1afl/+/PV-Cre-TG mice. We finally show that Scn1afl/+/SST-Cre-KI mice exhibited no noticeable behavioral abnormalities. These observations suggest that impaired Nav1.1 function in PV+ interneurons is critically involved in the pathogenesis of hyperactivity, autistic traits, and cognitive decline, as well as epileptic seizures, in Dravet syndrome.
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PMID:Impairments in social novelty recognition and spatial memory in mice with conditional deletion of Scn1a in parvalbumin-expressing cells. 2933 50

KCNQ2/3 channels, ubiquitously expressed neuronal potassium channels, have emerged as indispensable regulators of brain network activity. Despite their critical role in brain homeostasis, the mechanisms by which KCNQ2/3 dysfunction lead to hypersychrony are not fully known. Here, we show that deletion of KCNQ2/3 channels changed PV+ interneurons', but not SST+ interneurons', firing properties. We also find that deletion of either KCNQ2/3 or KCNQ2 channels from PV+ interneurons led to elevated homeostatic potentiation of fast excitatory transmission in pyramidal neurons. Pvalb-Kcnq2 null-mice showed increased seizure susceptibility, suggesting that decreases in interneuron KCNQ2/3 activity remodels excitatory networks, providing a new function for these channels.
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PMID:Deletion of KCNQ2/3 potassium channels from PV+ interneurons leads to homeostatic potentiation of excitatory transmission. 3038 37