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channelopathies/dopamina
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8 risultati
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?
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We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes. Whole exome sequencing identified a de novo SCN2A splice-site mutation (c.2379+1G>A, p.Glu717Gly.fs*30) resulting in deletion of exon 14, in a
Recurrent acute dystonic reaction and oculogyric crisis despite withdrawal of dopamine receptor blocking drugs.
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Adverse events of dopamine-blocking agents include acute dystonic reactions and oculogyric crises (OGCs). OGCs may be recurrent on maintenance of or re-exposure to the drug. Thus, complete withdrawal is recommended. Recurrent episodes of acute dystonia despite withdrawal and the lack of further
Acquired neuronal channelopathies in HIV-associated dementia.
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A gene expression profile of the human brain cortex was performed in people with HIV-1-associated dementia (HAD) using Affymetrix HG-U133 chips. Messenger RNA transcripts in middle frontal gyrus from subjects with HAD or milder neurocognitive dysfunction were compared to HIV-negative people. The
HCN channelopathy in external globus pallidus neurons in models of Parkinson's disease.
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Parkinson's disease is a common neurodegenerative disorder characterized by a profound motor disability that is traceable to the emergence of synchronous, rhythmic spiking in neurons of the external segment of the globus pallidus (GPe). The origins of this pathophysiology are poorly defined for the
Optogenetic Activation of Striatopallidal Neurons Reveals Altered HCN Gating in DYT1 Dystonia
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Firing activity of external globus pallidus (GPe) is crucial for motor control and is severely perturbed in dystonia, a movement disorder characterized by involuntary, repetitive muscle contractions. Here, we show that GPe projection neurons exhibit a reduction of firing frequency and an irregular
The role of L-type voltage-gated calcium channels Cav1.2 and Cav1.3 in normal and pathological brain function.
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The use of specific activators and inhibitors that penetrate the central nervous system has suggested an essential functional role of L-type calcium channels (LTCC) in several important physiological processes of the brain, including the modulation of the mesoaccumbal dopamine signalling pathway,
Shared mechanisms of epilepsy, migraine and affective disorders.
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Since the nineteenth century several clinical features have been observed in common between migraine and epilepsy (such as episodic attacks, triggering factors, presence of aura, frequent familiarity), but only in recent years researchers have really engaged in finding a common pathogenic mechanism.
Potassium Channels: A Potential Therapeutic Target for Parkinson's Disease.
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The pathogenesis of the second major neurodegenerative disorder, Parkinson's disease (PD), is closely associated with the dysfunction of potassium (K+) channels. Therefore, PD is also considered to be an ion channel disease or neuronal channelopathy. Mounting evidence has shown that K+ channels play
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