No abstract available.
Glioma* ; Limbic Encephalitis* ; Potassium Channels, Voltage-Gated ; Seizures*

Arrhythmias, Cardiac ; Humans ; Potassium Channels, Voltage-Gated ; genetics

Epilepsy is a group of disorders characterized by recurrent seizures. The etiologies of idiopathic epilepsy commonly have a genetic basis. Gene mutations causing several of the inherited epilepsies have been mapped. In this review, the authors summarize the available information on the genetic basis of human epilepsies and epilepsy syndromes, emphasizing how genetic defects may correlate with the pathophysiological mechanisms of brain hyperexcitability and gene defects can lead to epilepsy by altering multiple and diverse aspects of neuronal function.
Epilepsy ; genetics ; Humans ; KCNQ2 Potassium Channel ; Mutation ; NAV1.1 Voltage-Gated Sodium Channel ; Nerve Tissue Proteins ; genetics ; Potassium Channels ; genetics ; Potassium Channels, Voltage-Gated ; Receptors, Nicotinic ; genetics ; Research ; trends ; Research Design ; Sodium Channels ; genetics ; Voltage-Gated Sodium Channel beta-1 Subunit

OBJECTIVEThree long QT syndrome(LQTS) pedigrees were brought together for genetic diagnosis by using short tandem repeat(STR) markers.

METHODSGenomic DNA was extracted from blood samples. STR markers (D7S1824, D7S2439, D7S483, D3S1298, D3S1767, D3S3521) in or spanning the HERG and SCN5A gene were amplified; the haplotype analysis for LQTS was performed.

RESULTSClinical diagnosis showed that 15 are LQTS patients (3 died) and 11 are probable patients. Linkage analysis showed that LQTS patients are linked with the SCN5A gene in family 1, HERG is linked with the disease in family 2 and 3. Fourteen gene carriers were identified, 2 patients and 7 probable patients were excluded.

CONCLUSIONLinkage analysis using STR markers can serve as useful tool for presymptomatic diagnosis.

ERG1 Potassium Channel ; Ether-A-Go-Go Potassium Channels ; Female ; Genetic Linkage ; Haplotypes ; Humans ; Long QT Syndrome ; genetics ; Male ; NAV1.5 Voltage-Gated Sodium Channel ; Pedigree ; Potassium Channels ; genetics ; Potassium Channels, Voltage-Gated ; Sodium Channels ; genetics ; Tandem Repeat Sequences

Autoimmune limbic encephalitis is a rare cause of encephalitic disease. It is associated with various target antigens and is difficult to diagnose, and experience with its treatment is limited. This case report describes a 69-year-old man, who presented with life-threatening hyponatremia and confusion, following several months of gradually worsening faciobrachial dystonic seizures. Faciobrachial dystonic seizures are a well-described feature classically observed in voltage-gated potassium channel autoimmune encephalitis. The presence of chronic hyponatremia without cognitive dysfunction, eventually culminating in an acute episode of encephalopathy and severe hyponatremia, is a pattern of natural history not previously documented in this condition.
Aged ; Brain Diseases ; Dystonia ; Encephalitis* ; Humans ; Hyponatremia* ; Limbic Encephalitis ; Natural History ; Potassium Channels, Voltage-Gated* ; Seizures*

Limbic encephalitis has been reported usually as an autoimmune complication related to onconeuronal antigen of underlying cancer with poor prognosis. Antibodies reactive with neuronal voltage-gated potassium channels (VGKCs) are recently recognized as a pathogenic cause in nonparaneoplastic limbic encephalitis, which is responsive to immunotherapy. We report a patient who had subacute encephalopathy with clinical and radiographic evidences of limbic encephalitis. The patient was seropositive for VGKC antibodies and resulted in a good prognosis with steroids. This has not yet been reported in Korea.
Antibodies ; Humans ; Immunotherapy ; Korea ; Limbic Encephalitis* ; Neurons ; Potassium Channels, Voltage-Gated* ; Prognosis ; Steroids

BACKGROUND: Acquired neuromyotonia (NMT) forms part of the spectrum of acquired peripheral nerve hyperexcitability syndrome, and is thought to be caused by antibodies to voltage-gated potassium channels (VGKC). Exertional weakness is unusual unless autoimmune myasthenia gravis (MG) is superimposed. CASE REPORT: A case of acquired NMT accompanied by exertional weakness without coexistence of seropositive MG is reported herein. CONCLUSIONS: Clinical and electrophysiological observations suggest that the cholinergic overactivity in NMT can compromise the safety factor sufficiently to cause a defect in neuromuscular junction transmission.
Antibodies ; Isaacs Syndrome* ; Myasthenia Gravis ; Neuromuscular Junction ; Peripheral Nerves ; Potassium Channels, Voltage-Gated

OBJECTIVETo investigate the expression of LncRNA KCNQ1OT1 in patients with acute myeloid leukemia (AML) and to analyze the relation of LncRNA KCNQ1OT1 expression levels with clinicopathological features.

METHODSA total of 68 patients with AML were enrolled in the study, 48 out of them were suffered from acute myeloid leukemia (AML) and 20 reached to complete remission (CR), 30 age-matched patients with iron-deficient anemia were included in control group, the peripheral blood samples of all the patients were collected, and the real-time fluorescent quantitative PCR (qRT-PCR) was used to detect the expression of LncRNA KCNQ1OT1, meanwhile, the correlation of its expression with clinicopathological characteristics and prognosis was analyzed.

RESULTSThe expression of LncRNA KCNQ1OT1 in AML patients was significantly higher than that in the patient with complete remission and iron-deficient anemia (F=14.67, P<0.01). The expression of LncRNA KCNQ1OT1 was not significantly different between 20 cases of AML-CR and 30 cases of iron-deficient anemia (P>0.05). The expression of LncRNA KCNQ1OT1 was associated with NCCN risk grade and survival status in patients with AML. The median overall survival time was significantly shorter in patients with high expression of LncRNA KCNQ1OT1 than that in patients with low expression(P<0.05).

CONCLUSIONLncRNA KCNQ1OT1 may be involved in the regulation of AML. Expression of LncRNA KCNQ1OT1 and NCCN risk score can be used as biomarkers of prognosis in the patients with AML and may be a potential prognostic marker and therapeutic target for AML patients.

Humans ; Leukemia, Myeloid, Acute ; Potassium Channels, Voltage-Gated ; Prognosis ; RNA, Long Noncoding ; Remission Induction

Accumulating evidence demonstrates that the nucleus tractus solitarii (NTS) neurons serve as central respiratory chemoreceptors, but the underlying molecular mechanisms remain undefined. The present study investigated the expression of acid-sensitive ether-à-go-go-gene-like (Elk, Kv12) channels in the NTS of mice. Immunofluorescence staining was used to observe the distribution and cellular localization of the Kv12 channels in NTS neurons. Western blot and quantitative real-time PCR (qPCR) were used to evaluate protein and mRNA expression levels of Kv12 channels. The results showed that all of the three members (Kv12.1, Kv12.2, Kv12.3) of the Kv12 channel family were expressed in NTS neurons, and their expressions were co-localized with paired-like homeobox 2b gene (Phox2b) expression. The expression of Kv12.1 mRNA was the largest, whereas the expression of Kv12.3 was the least in the NTS. The results suggest Kv12 channels are expressed in Phox2b-expressing neurons in the NTS of mice, which provides molecular evidence for pH sensitivity in Phox2b-expressing NTS neurons.
Animals ; Mice ; Neurons ; Potassium Channels, Voltage-Gated ; Solitary Nucleus ; Transcription Factors/genetics*

As a noninvasive neuromodulation technique, transcranial magnetic stimulation (TMS) is widely used in the clinical treatment of neurological and psychiatric diseases, but the mechanism of its action is still unclear. The purpose of this paper is to investigate the effects of different frequencies of magnetic stimulation (MS) on neuronal excitability and voltage-gated potassium channels in the
Action Potentials ; Animals ; Magnetic Phenomena ; Mental Disorders ; Mice ; Neurons ; Patch-Clamp Techniques ; Potassium Channels, Voltage-Gated