当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family.

Abstract：

:Epileptic disorders affect about 20-40 million people worldwide, and 40% of these are idiopathic generalized epilepsies (IGEs; ref. 1). Most of the IGEs that are inherited are complex, multigenic diseases. To address basic mechanisms for epilepsies, we have focused on one well-defined class of IGEs with an autosomal-dominant mode of inheritance: the benign familial neonatal convulsions (BFNC; refs 2,3). Genetic heterogeneity of BFNC has been observed. Two loci, EBN1 and EBN2, have been mapped by linkage analysis to chromosome 20q13 (refs 5,6) and chromosome 8q24 (refs 7,8), respectively. By positional cloning, we recently identified the gene for EBN1 as KCNQ2 (ref. 9). This gene, a voltage-gated potassium channel, based on homology, is a member of the KQT-like family. Here we describe an additional member, KCNQ3. We mapped this new gene to chromosome 8, between markers D8S256 and D8S284 on a radiation hybrid map. We screened KCNQ3 for mutations in the large BFNC family previously linked to chromosome 8q24 in the same marker interval. We found a missense mutation in the critical pore region in perfect co-segregation with the BFNC phenotype. The same conserved amino acid is also mutated in KVLQT1 (KCNQ1) in an LQT patient. KCNQ2, KCNQ3 and undiscovered genes of the same family of K+ channels are strong candidates for other IGEs.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Charlier C,Singh NA,Ryan SG,Lewis TB,Reus BE,Leach RJ,Leppert M

doi

10.1038/ng0198-53

subject

Has Abstract

pub_date

1998-01-01 00:00:00

pages

53-5

issue

1

eissn

1061-4036

issn

1546-1718

journal_volume

18

pub_type

杂志文章

相关文献

NATURE GENETICS文献大全
  • A role for the bacterial GATC methylome in antibiotic stress survival.

    abstract：:Antibiotic resistance is an increasingly serious public health threat. Understanding pathways allowing bacteria to survive antibiotic stress may unveil new therapeutic targets. We explore the role of the bacterial epigenome in antibiotic stress survival using classical genetic tools and single-molecule real-time seque...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3530

    authors： Cohen NR,Ross CA,Jain S,Shapiro RS,Gutierrez A,Belenky P,Li H,Collins JJ

    更新日期：2016-05-01 00:00:00

  • Genome-wide mapping of global-to-local genetic effects on human facial shape.

    abstract：:Genome-wide association scans of complex multipartite traits like the human face typically use preselected phenotypic measures. Here we report a data-driven approach to phenotyping facial shape at multiple levels of organization, allowing for an open-ended description of facial variation while preserving statistical p...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0057-4

    authors： Claes P,Roosenboom J,White JD,Swigut T,Sero D,Li J,Lee MK,Zaidi A,Mattern BC,Liebowitz C,Pearson L,González T,Leslie EJ,Carlson JC,Orlova E,Suetens P,Vandermeulen D,Feingold E,Marazita ML,Shaffer JR,Wysocka J,Sh

    更新日期：2018-03-01 00:00:00

  • A male-female bias in type 1 diabetes and linkage to chromosome Xp in MHC HLA-DR3-positive patients.

    abstract：:It is generally assumed that the male:female (M:F) ratio in patients with type 1 (insulin-dependent) diabetes mellitus (IDDM) is 1. A recent survey, however, revealed that high incidence countries (mainly European) have a high M:F ratio and low incidence ones (Asian and African) have a low M:F ratio. We have now analy...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/995

    authors： Cucca F,Goy JV,Kawaguchi Y,Esposito L,Merriman ME,Wilson AJ,Cordell HJ,Bain SC,Todd JA

    更新日期：1998-07-01 00:00:00

  • A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization.

    abstract：:Extremes of the electrocardiographic QT interval, a measure of cardiac repolarization, are associated with increased cardiovascular mortality. We identified a common genetic variant influencing this quantitative trait through a genome-wide association study on 200 subjects at the extremes of a population-based QT inte...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1790

    authors： Arking DE,Pfeufer A,Post W,Kao WH,Newton-Cheh C,Ikeda M,West K,Kashuk C,Akyol M,Perz S,Jalilzadeh S,Illig T,Gieger C,Guo CY,Larson MG,Wichmann HE,Marbán E,O'Donnell CJ,Hirschhorn JN,Kääb S,Spooner PM,Meitinger T

    更新日期：2006-06-01 00:00:00

  • BAP1 loss defines a new class of renal cell carcinoma.

    abstract：:The molecular pathogenesis of renal cell carcinoma (RCC) is poorly understood. Whole-genome and exome sequencing followed by innovative tumorgraft analyses (to accurately determine mutant allele ratios) identified several putative two-hit tumor suppressor genes, including BAP1. The BAP1 protein, a nuclear deubiquitina...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2323

    authors： Peña-Llopis S,Vega-Rubín-de-Celis S,Liao A,Leng N,Pavía-Jiménez A,Wang S,Yamasaki T,Zhrebker L,Sivanand S,Spence P,Kinch L,Hambuch T,Jain S,Lotan Y,Margulis V,Sagalowsky AI,Summerour PB,Kabbani W,Wong SW,Grishin N,

    更新日期：2012-06-10 00:00:00

  • Mutant antimicrobial peptide hepcidin is associated with severe juvenile hemochromatosis.

    abstract：:Animal models indicate that the antimicrobial peptide hepcidin (HAMP; OMIM 606464) is probably a key regulator of iron absorption in mammals. Here we report the identification of two mutations (93delG and 166C-->T) in HAMP on 19q13 in two families with a new type of juvenile hemochromatosis. ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1053

    authors： Roetto A,Papanikolaou G,Politou M,Alberti F,Girelli D,Christakis J,Loukopoulos D,Camaschella C

    更新日期：2003-01-01 00:00:00

  • A Y-encoded subunit of the translation initiation factor Eif2 is essential for mouse spermatogenesis.

    abstract：:In mouse and man, deletions of specific regions of the Y chromosome have been linked to early failure of spermatogenesis and consequent sterility; the Y chromosomal gene(s) with this essential early role in spermatogenesis have not been identified. The partial deletion of the mouse Y short arm (the Sxrb deletion) that...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng717

    authors： Mazeyrat S,Saut N,Grigoriev V,Mahadevaiah SK,Ojarikre OA,Rattigan A,Bishop C,Eicher EM,Mitchell MJ,Burgoyne PS

    更新日期：2001-09-01 00:00:00

  • RPA regulates telomerase action by providing Est1p access to chromosome ends.

    abstract：:Replication protein A (RPA) is a highly conserved single-stranded DNA-binding protein involved in DNA replication, recombination and repair. We show here that RPA is present at the telomeres of the budding yeast Saccharomyces cerevisiae, with a maximal association in S phase. A truncation of the N-terminal region of R...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1284

    authors： Schramke V,Luciano P,Brevet V,Guillot S,Corda Y,Longhese MP,Gilson E,Géli V

    更新日期：2004-01-01 00:00:00

  • Fine mapping in the MHC region accounts for 18% additional genetic risk for celiac disease.

    abstract：:Although dietary gluten is the trigger for celiac disease, risk is strongly influenced by genetic variation in the major histocompatibility complex (MHC) region. We fine mapped the MHC association signal to identify additional risk factors independent of the HLA-DQA1 and HLA-DQB1 alleles and observed five new associat...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3268

    authors： Gutierrez-Achury J,Zhernakova A,Pulit SL,Trynka G,Hunt KA,Romanos J,Raychaudhuri S,van Heel DA,Wijmenga C,de Bakker PI

    更新日期：2015-06-01 00:00:00

  • Integration of summary data from GWAS and eQTL studies predicts complex trait gene targets.

    abstract：:Genome-wide association studies (GWAS) have identified thousands of genetic variants associated with human complex traits. However, the genes or functional DNA elements through which these variants exert their effects on the traits are often unknown. We propose a method (called SMR) that integrates summary-level data ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.3538

    authors： Zhu Z,Zhang F,Hu H,Bakshi A,Robinson MR,Powell JE,Montgomery GW,Goddard ME,Wray NR,Visscher PM,Yang J

    更新日期：2016-05-01 00:00:00

  • SMC1beta-deficient female mice provide evidence that cohesins are a missing link in age-related nondisjunction.

    abstract：:Mitotic chromosome segregation is facilitated by the cohesin complex, which maintains physical connections between sister chromatids until anaphase. Meiotic cell division is considerably more complex, as cohesion must be released sequentially to facilitate orderly segregation of chromosomes at both meiosis I and meios...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1672

    authors： Hodges CA,Revenkova E,Jessberger R,Hassold TJ,Hunt PA

    更新日期：2005-12-01 00:00:00

  • Author Correction: The copy number variation landscape of congenital anomalies of the kidney and urinary tract.

    abstract：:In the version of this article initially published, affiliation 38 incorrectly read "ICNU-Nephrology and Urology Department, Barcelona, Spain"; "Renal Division, Hospital Clinic, IDIBAPS, University of Barcelona, Barcelona, Spain" is the correct affiliation. The error has been corrected in the HTML and PDF versions of ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-019-0376-0

    authors： Verbitsky M,Westland R,Perez A,Kiryluk K,Liu Q,Krithivasan P,Mitrotti A,Fasel DA,Batourina E,Sampson MG,Bodria M,Werth M,Kao C,Martino J,Capone VP,Vivante A,Shril S,Kil BH,Marasa M,Zhang JY,Na YJ,Lim TY,Ahram

    更新日期：2019-04-01 00:00:00

  • Molecular landmarks of tumor hypoxia across cancer types.

    abstract：:Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis, but the molecular hallmarks of tumor hypoxia remain poorly defined. To fill this gap, we quantified hypoxia in 8,006 tumors across 19 tumor types. In ten tumo...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-018-0318-2

    authors： Bhandari V,Hoey C,Liu LY,Lalonde E,Ray J,Livingstone J,Lesurf R,Shiah YJ,Vujcic T,Huang X,Espiritu SMG,Heisler LE,Yousif F,Huang V,Yamaguchi TN,Yao CQ,Sabelnykova VY,Fraser M,Chua MLK,van der Kwast T,Liu SK,Bout

    更新日期：2019-02-01 00:00:00

  • ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms.

    abstract：:Kawasaki disease is a pediatric systemic vasculitis of unknown etiology for which a genetic influence is suspected. We identified a functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also w...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2007.59

    authors： Onouchi Y,Gunji T,Burns JC,Shimizu C,Newburger JW,Yashiro M,Nakamura Y,Yanagawa H,Wakui K,Fukushima Y,Kishi F,Hamamoto K,Terai M,Sato Y,Ouchi K,Saji T,Nariai A,Kaburagi Y,Yoshikawa T,Suzuki K,Tanaka T,Nagai T,

    更新日期：2008-01-01 00:00:00

  • Multiple knockout analysis of genetic robustness in the yeast metabolic network.

    abstract：:Genetic robustness characterizes the constancy of the phenotype in face of heritable perturbations. Previous investigations have used comprehensive single and double gene knockouts to study gene essentiality and pairwise gene interactions in the yeast Saccharomyces cerevisiae. Here we conduct an in silico multiple kno...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1856

    authors： Deutscher D,Meilijson I,Kupiec M,Ruppin E

    更新日期：2006-09-01 00:00:00

  • The Capsella rubella genome and the genomic consequences of rapid mating system evolution.

    abstract：:The shift from outcrossing to selfing is common in flowering plants, but the genomic consequences and the speed at which they emerge remain poorly understood. An excellent model for understanding the evolution of self fertilization is provided by Capsella rubella, which became self compatible <200,000 years ago. We re...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2669

    authors： Slotte T,Hazzouri KM,Ågren JA,Koenig D,Maumus F,Guo YL,Steige K,Platts AE,Escobar JS,Newman LK,Wang W,Mandáková T,Vello E,Smith LM,Henz SR,Steffen J,Takuno S,Brandvain Y,Coop G,Andolfatto P,Hu TT,Blanchette M,

    更新日期：2013-07-01 00:00:00

  • The polycystic kidney disease 1 (PKD1) gene encodes a novel protein with multiple cell recognition domains.

    abstract：:Characterization of the polycystic kidney disease 1 (PKD1) gene has been complicated by genomic rearrangements on chromosome 16. We have used an exon linking strategy, taking RNA from a cell line containing PKD1 but not the duplicate loci, to clone a cDNA contig of the entire transcript. The transcript consists of 14,...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0695-151

    authors： Hughes J,Ward CJ,Peral B,Aspinwall R,Clark K,San Millán JL,Gamble V,Harris PC

    更新日期：1995-06-01 00:00:00

  • Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility.

    abstract：:Follicle stimulating hormone (FSH) is a member of the glycoprotein hormone family that includes luteinzing hormone (LH), thyroid stimulating hormone, and chorionic gonadotropin. These heterodimeric hormones share a common alpha subunit and differ in their hormone-specific beta subunit. The biological activity is confe...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0297-201

    authors： Kumar TR,Wang Y,Lu N,Matzuk MM

    更新日期：1997-02-01 00:00:00

  • Xlr3b is a new imprinted candidate for X-linked parent-of-origin effects on cognitive function in mice.

    abstract：:Imprinted genes show differential expression between maternal and paternal alleles as a consequence of epigenetic modification that can result in 'parent-of-origin' effects on phenotypic traits. There is increasing evidence from mouse and human studies that imprinted genes may influence behavior and cognitive function...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1577

    authors： Davies W,Isles A,Smith R,Karunadasa D,Burrmann D,Humby T,Ojarikre O,Biggin C,Skuse D,Burgoyne P,Wilkinson L

    更新日期：2005-06-01 00:00:00

  • Ancestry estimation and control of population stratification for sequence-based association studies.

    abstract：:Estimating individual ancestry is important in genetic association studies where population structure leads to false positive signals, although assigning ancestry remains challenging with targeted sequence data. We propose a new method for the accurate estimation of individual genetic ancestry, based on direct analysi...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.2924

    authors： Wang C,Zhan X,Bragg-Gresham J,Kang HM,Stambolian D,Chew EY,Branham KE,Heckenlively J,FUSION Study.,Fulton R,Wilson RK,Mardis ER,Lin X,Swaroop A,Zöllner S,Abecasis GR

    更新日期：2014-04-01 00:00:00

  • Genetic variants at 6p21.33 are associated with susceptibility to follicular lymphoma.

    abstract：:We conducted genome-wide association studies of non-Hodgkin lymphoma using Illumina HumanHap550 BeadChips to identify subtype-specific associations in follicular, diffuse large B-cell and chronic lymphocytic leukemia/small lymphocytic lymphomas. We found that rs6457327 on 6p21.33 was associated with susceptibility to ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng.419

    authors： Skibola CF,Bracci PM,Halperin E,Conde L,Craig DW,Agana L,Iyadurai K,Becker N,Brooks-Wilson A,Curry JD,Spinelli JJ,Holly EA,Riby J,Zhang L,Nieters A,Smith MT,Brown KM

    更新日期：2009-08-01 00:00:00

  • Recessive mutations in the gene encoding the tubby-like protein TULP1 in patients with retinitis pigmentosa.

    abstract：:A recessive mutation in the tub gene causes obesity, deafness and retinal degeneration in tubby mice. The tub gene is a member of a family of tubby-like genes (TULPs) that encode proteins of unknown function. Members of this family have been identified in plants, vertebrates and invertebrates. The TULP proteins share ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0298-174

    authors： Hagstrom SA,North MA,Nishina PL,Berson EL,Dryja TP

    更新日期：1998-02-01 00:00:00

  • Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.

    abstract：:An amendment to this paper has been published and can be accessed via a link at the top of the paper. ...

    journal_title：Nature genetics

    pub_type： 已发布勘误

    doi：10.1038/s41588-019-0449-0

    authors： Malik R,Chauhan G,Traylor M,Sargurupremraj M,Okada Y,Mishra A,Rutten-Jacobs L,Giese AK,van der Laan SW,Gretarsdottir S,Anderson CD,Chong M,Adams HHH,Ago T,Almgren P,Amouyel P,Ay H,Bartz TM,Benavente OR,Bevan S,Bon

    更新日期：2019-07-01 00:00:00

  • Genome-wide meta-analyses identify multiple loci associated with smoking behavior.

    abstract：:Consistent but indirect evidence has implicated genetic factors in smoking behavior. We report meta-analyses of several smoking phenotypes within cohorts of the Tobacco and Genetics Consortium (n = 74,053). We also partnered with the European Network of Genetic and Genomic Epidemiology (ENGAGE) and Oxford-GlaxoSmithKl...

    journal_title：Nature genetics

    pub_type： 杂志文章,meta分析

    doi：10.1038/ng.571

    authors： Tobacco and Genetics Consortium.

    更新日期：2010-05-01 00:00:00

  • A double-stranded RNA binding protein required for activation of repressed messages in mammalian germ cells.

    abstract：:Chromatin packaging in mammalian spermatozoa requires an ordered replacement of the somatic histones by two classes of spermatid-specific basic proteins, the transition proteins and the protamines. Temporal expression of transition proteins and protamines during spermatid differentiation is under translational control...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/9684

    authors： Zhong J,Peters AH,Lee K,Braun RE

    更新日期：1999-06-01 00:00:00

  • Author Correction: Reference component analysis of single-cell transcriptomes elucidates cellular heterogeneity in human colorectal tumors.

    abstract：:In the version of the article published, the author list is not accurate. Igor Cima and Min-Han Tan should have been authors, appearing after Mark Wong in the author list, while Paul Jongjoon Choi should not have been listed as an author. Igor Cima and Min-Han Tan both have the affiliation Institute of Bioengineering ...

    journal_title：Nature genetics

    pub_type： 杂志文章,已发布勘误

    doi：10.1038/s41588-018-0299-1

    authors： Li H,Courtois ET,Sengupta D,Tan Y,Chen KH,Goh JJL,Kong SL,Chua C,Hon LK,Tan WS,Wong M,Cima I,Tan MH,Wee LJK,Hillmer AM,Tan IB,Robson P,Prabhakar S

    更新日期：2018-12-01 00:00:00

  • Whole-genome deep-learning analysis identifies contribution of noncoding mutations to autism risk.

    abstract：:We address the challenge of detecting the contribution of noncoding mutations to disease with a deep-learning-based framework that predicts the specific regulatory effects and the deleterious impact of genetic variants. Applying this framework to 1,790 autism spectrum disorder (ASD) simplex families reveals a role in ...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/s41588-019-0420-0

    authors： Zhou J,Park CY,Theesfeld CL,Wong AK,Yuan Y,Scheckel C,Fak JJ,Funk J,Yao K,Tajima Y,Packer A,Darnell RB,Troyanskaya OG

    更新日期：2019-06-01 00:00:00

  • PRC1 proteins orchestrate three-dimensional genome architecture.

    abstract：:The three-dimensional organization of the genome has an important role in orchestrating gene expression, but its regulation is poorly understood. Now, a new study uncovers a major role for Polycomb components of the PRC1 complex in organizing physical networks of genes that are co-repressed to maintain pluripotency. ...

    journal_title：Nature genetics

    pub_type： 评论,新闻

    doi：10.1038/ng.3411

    authors： Cavalli G

    更新日期：2015-10-01 00:00:00

  • A literature network of human genes for high-throughput analysis of gene expression.

    abstract：:We have carried out automated extraction of explicit and implicit biomedical knowledge from publicly available gene and text databases to create a gene-to-gene co-citation network for 13,712 named human genes by automated analysis of titles and abstracts in over 10 million MEDLINE records. The associations between gen...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng0501-21

    authors： Jenssen TK,Laegreid A,Komorowski J,Hovig E

    更新日期：2001-05-01 00:00:00

  • Toward genome-wide SNP genotyping.

    abstract：:Genome-wide association studies with SNP markers are expected to allow identification of genes that underlie complex disorders. Hundreds of thousands of SNP markers will be required for comprehensive genome-wide association studies. The development of microarray-based methods for SNP genotyping on this scale remains a...

    journal_title：Nature genetics

    pub_type： 杂志文章

    doi：10.1038/ng1558

    authors： Syvänen AC

    更新日期：2005-06-01 00:00:00