KCNQ2 K+ Channel Mono
- Known as:
- KCNQ2 K+ Channel Mono
- Catalog number:
- 11511
- Product Quantity:
- 100ug
- Category:
- -
- Supplier:
- QED
- Gene target:
- KCNQ2 + Channel Mono
Related genes to: KCNQ2 K+ Channel Mono
- Gene:
- KCNQ2 NIH gene
- Name:
- potassium voltage-gated channel subfamily Q member 2
- Previous symbol:
- EBN, EBN1
- Synonyms:
- Kv7.2, ENB1, BFNC, KCNA11, HNSPC
- Chromosome:
- 20q13.33
- Locus Type:
- gene with protein product
- Date approved:
- 1998-01-12
- Date modifiied:
- 2016-02-04
Related products to: KCNQ2 K+ Channel Mono
Related articles to: KCNQ2 K+ Channel Mono
- Tremor disorders have various genetic causes. - Source: PubMed
Publication date: 2024/05/09
Paparella GiuliaGalosi EleonoraIrelli Emanuele CerulliAngelini LucaBirreci DanieleCosta DavideDe Riggi MartinaCannavacciuolo AntonioTruini AndreaBologna Matteo - Next generation sequencing based diagnosis has emerged as a promising tool for evaluating critically ill neonates and children. However, there is limited data on its utility in developing countries. We assessed its diagnostic rate and clinical impact on management of pediatric patients with a suspected genetic disorder requiring critical care. The study was conducted at a single tertiary hospital in Northern India. We analyzed 70 children with an illness requiring intensive care and obtained a precise molecular diagnosis in 32 of 70 probands (45.3%) using diverse sequencing techniques such as clinical exome, whole exome, and whole genome. A significant change in clinical outcome was observed in 13 of 32 (40.6%) diagnosed probands with a change in medication in 11 subjects and redirection to palliative care in two subjects. Additional benefits included specific dietary management (three cases), avoidance of a major procedure (one case) and better reproductive counseling. Dramatic therapeutic responses were observed in three cases with SCN1A, SCN2A and KCNQ2-related epileptic encephalopathy. A delayed turn-around for sequencing results was perceived as a major limiting factor in the study, as rapid and ultra-rapid sequencing was not available. Achieving a precise molecular diagnosis has great utility in managing critically ill patients with suspected genetic disorders in developing countries. - Source: PubMed
Publication date: 2024/04/11
Bhatia SameerPal SwastiKulshrestha SamarthGupta DhirenSoni ArunSaxena RenuBijarnia-Mahay SunitaVerma Ishwar ChanderPuri Ratna Dua - Paroxysmal kinesigenic dyskinesia (PKD) represents the most prevalent form of paroxysmal dyskinesia, characterized by recurrent and transient attacks of involuntary movements triggered by a sudden voluntary action. In this study, whole-exome sequencing was conducted on a cohort of Chinese patients to identify causal mutations. In one young female case, a de novo variant (NM_000718.3:exon3:c.479C > T:p.S160F) was identified as the causative lesion. This finding may broaden the phenotypic spectrum of mutations and provide a prospective cause of primary PKD. Additionally, a novel start-loss variant (NM_000682.7:c.3G > A) within further denied its association with benign adult familial myoclonic epilepsy, and a E515D variant that was reported as a genetic susceptibility factor for seizures had no damaging effect in this family. In sum, this study established a correlation between and primary PKD, and found valid evidence that further negates the pathogenic role of in benign adult familial myoclonic epilepsy. - Source: PubMed
Publication date: 2024/03/22
Yuan ZhuangzhuangWang QianWang ChenyuLiu YuxingFan LiangliangLiu YihuiHuang Hao - Infantile epileptic spasms syndrome (IESS) is a devastating developmental epileptic encephalopathy (DEE) consisting of epileptic spasms, as well as one or both of developmental regression or stagnation and hypsarrhythmia on EEG. A myriad of aetiologies are associated with the development of IESS; broadly, 60% of cases are thought to be structural, metabolic or infectious in nature, with the remainder genetic or of unknown cause. Epilepsy genetics is a growing field, and over 28 copy number variants and 70 single gene pathogenic variants related to IESS have been discovered to date. While not exhaustive, some of the most commonly reported genetic aetiologies include trisomy 21 and pathogenic variants in genes such as , , , , , and . Understanding the genetic mechanisms of IESS may provide the opportunity to better discern IESS pathophysiology and improve treatments for this condition. This narrative review presents an overview of our current understanding of IESS genetics, with an emphasis on animal models of IESS pathogenesis, the spectrum of genetic aetiologies of IESS (i.e., chromosomal disorders, single-gene disorders, trinucleotide repeat disorders and mitochondrial disorders), as well as available genetic testing methods and their respective diagnostic yields. Future opportunities as they relate to precision medicine and epilepsy genetics in the treatment of IESS are also explored. - Source: PubMed
Publication date: 2024/02/21
Snyder Hannah EJain PuneetRamachandranNair RajeshJones Kevin CWhitney Robyn - Global developmental delay or intellectual disability usually accompanies various genetic disorders as a part of the syndrome, which may include seizures, autism spectrum disorder and multiple congenital abnormalities. Next-generation sequencing (NGS) techniques have improved the identification of pathogenic variants and genes related to developmental delay. This study aimed to evaluate the yield of whole exome sequencing (WES) and neurodevelopmental disorder gene panel sequencing in a pediatric cohort from Ukraine. Additionally, the study computationally predicted the effect of variants of uncertain significance (VUS) based on recently published genetic data from the country's healthy population. - Source: PubMed
Publication date: 2024/03/27
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