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<meta name="keywords" content="C0022387, cardio auditory syncope syndrome, cardio-auditory syndrome, cardio-auditory-syncope syndrome, cardio-auditory-syncope syndromes, cardioauditory syndrome of jervell and lange nielsen, cardioauditory syndrome of jervell and lange-nielsen, deafness, congenital, and functional heart disease, disease or syndrome, jervell and lange nielsen syndrome, jervell and lange-nielsen syndrome, jervell and lange-nielsen syndrome 1, jervell and lange-nielsen syndrome type 1, jervell and lange-nielson syndrome, jervell lange nielsen syndrome, jervell lange-nielsen syndrome, jervell-lange nielsen syndrome, jlns, jlns1, long qt interval-deafness syndrome, long qt interval-hearing loss syndrome, prolonged qt interval in ekg and sudden death, surdo cardiac syndrome, surdo-cardiac syndrome, surdo-cardiac syndromes, syndrome, cardio-auditory-syncope, syndrome, jervell-lange nielsen, syndrome, surdo-cardiac, syndromes, cardio-auditory-syncope, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=5929
|
||
ConceptID=C0022387
|
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-->
|
||
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Jervell and Lange-Nielsen syndrome<span class="h1sub">(JLNS)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5929</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0022387</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Jervell-Lange Nielsen syndrome; JLNS</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Jervell and Lange-Nielsen syndrome (373905003); Cardio-auditory syndrome (373905003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0002441" target="_blank">MONDO:0002441</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/220400" target="_blank">220400</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span> Phenotypic series:</td>
|
||
<td><a href="https://omim.org/phenotypicSeries/PS220400" target="_blank">PS220400</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=90647">ORPHA90647</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1405" target="_blank">Jervell and Lange-Nielsen Syndrome</a></div><div>Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital profound bilateral sensorineural hearing loss and long QTc, usually >500 msec. Prolongation of the QTc interval is associated with tachyarrhythmias, including ventricular tachycardia, episodes of torsade de pointes ventricular tachycardia, and ventricular fibrillation, which may culminate in syncope or sudden death. Iron-deficient anemia and elevated levels of gastrin are also frequent features of JLNS. The classic presentation of JLNS is a deaf child who experiences syncopal episodes during periods of stress, exercise, or fright. Fifty percent of individuals with JLNS had cardiac events before age three years. More than half of untreated children with JLNS die before age 15 years. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1405#jln.Summary" target="NBK1405">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Diagnosis" target="NBK1405">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Clinical_Characteristics" target="NBK1405">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Genetically_Related_Allelic_Disorder" target="NBK1405">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Differential_Diagnosis" target="NBK1405">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Management" target="NBK1405">Management</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Genetic_Counseling" target="NBK1405">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Resources" target="NBK1405">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Molecular_Genetics" target="NBK1405">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.Chapter_Notes" target="NBK1405">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1405#jln.References" target="NBK1405">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Lisbeth Tranebjærg | Ricardo A Samson | Glenn Edward Green <a href="/books/NBK1405" target="NBK1405" title="NCBI Bookshelf: Jervell and Lange-Nielsen Syndrome">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge between beats. Beginning in early childhood, the irregular heartbeats increase the risk of fainting (syncope) and sudden death. <a target="_blank" href="https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome">https://medlineplus.gov/genetics/condition/jervell-and-lange-nielsen-syndrome</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0023976[DISCUI]&test_type=Clinical" ref="ncbi_uid=44193">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=44193">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=44193" ref="ncbi_uid=44193">V</a></span></span><span class="TLline"><a href="/medgen/44193" ref="tree=GTR&ncbi_uid=44193&link_uid=44193" title="View MedGen record for 'Long QT syndrome'">Long QT syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1141890[DISCUI]&test_type=Clinical" ref="ncbi_uid=685787">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=685787" ref="ncbi_uid=685787">V</a></span></span><span class="TLline"><a href="/medgen/685787" ref="tree=GTR&ncbi_uid=685787&link_uid=685787" title="View MedGen record for 'Congenital long QT syndrome'">Congenital long QT syndrome</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551647[DISCUI]&test_type=Clinical" ref="ncbi_uid=1641146">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1641146" target="_blank" href="/omim/192500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=1641146">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1641146" ref="ncbi_uid=1641146">V</a></span></span><span class="TLline"><a href="/medgen/1641146" ref="tree=GTR&ncbi_uid=1641146&link_uid=1641146" title="View MedGen record for 'Long QT syndrome 1'">Long QT syndrome 1</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150943[DISCUI]&test_type=Clinical" ref="ncbi_uid=462293">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462293" target="_blank" href="/omim/152427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=462293">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462293" ref="ncbi_uid=462293">V</a></span></span><span class="TLline"><a href="/medgen/462293" ref="tree=GTR&ncbi_uid=462293&link_uid=462293" title="View MedGen record for 'Long QT syndrome 2'">Long QT syndrome 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859062[DISCUI]&test_type=Clinical" ref="ncbi_uid=349087">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=349087" target="_blank" href="/omim/600163">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=349087">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=349087" ref="ncbi_uid=349087">V</a></span></span><span class="TLline"><a href="/medgen/349087" ref="tree=GTR&ncbi_uid=349087&link_uid=349087" title="View MedGen record for 'Long QT syndrome 3'">Long QT syndrome 3</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1867904[DISCUI]&test_type=Clinical" ref="ncbi_uid=358092">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=358092" target="_blank" href="/omim/176261">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=358092">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=358092" ref="ncbi_uid=358092">V</a></span></span><span class="TLline"><a href="/medgen/358092" ref="tree=GTR&ncbi_uid=358092&link_uid=358092" title="View MedGen record for 'Long QT syndrome 5'">Long QT syndrome 5</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150953[DISCUI]&test_type=Clinical" ref="ncbi_uid=462303">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462303" target="_blank" href="/omim/603796">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=462303">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462303" ref="ncbi_uid=462303">V</a></span></span><span class="TLline"><a href="/medgen/462303" ref="tree=GTR&ncbi_uid=462303&link_uid=462303" title="View MedGen record for 'Long QT syndrome 6'">Long QT syndrome 6</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678485[DISCUI]&test_type=Clinical" ref="ncbi_uid=395635">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=395635" target="_blank" href="/omim/152427">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=395635">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=395635" ref="ncbi_uid=395635">V</a></span></span><span class="TLline"><a href="/medgen/395635" ref="tree=GTR&ncbi_uid=395635&link_uid=395635" title="View MedGen record for 'Long QT syndrome 9'">Long QT syndrome 9</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678484[DISCUI]&test_type=Clinical" ref="ncbi_uid=394836">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=394836" target="_blank" href="/omim/608256">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=394836">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=394836" ref="ncbi_uid=394836">V</a></span></span><span class="TLline"><a href="/medgen/394836" ref="tree=GTR&ncbi_uid=394836&link_uid=394836" title="View MedGen record for 'Long QT syndrome 10'">Long QT syndrome 10</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2678483[DISCUI]&test_type=Clinical" ref="ncbi_uid=437218">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=437218" target="_blank" href="/omim/604001">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=437218">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=437218" ref="ncbi_uid=437218">V</a></span></span><span class="TLline"><a href="/medgen/437218" ref="tree=GTR&ncbi_uid=437218&link_uid=437218" title="View MedGen record for 'Long QT syndrome 11'">Long QT syndrome 11</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2751830[DISCUI]&test_type=Clinical" ref="ncbi_uid=442824">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=442824" target="_blank" href="/omim/601017">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=442824">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=442824" ref="ncbi_uid=442824">V</a></span></span><span class="TLline"><a href="/medgen/442824" ref="tree=GTR&ncbi_uid=442824&link_uid=442824" title="View MedGen record for 'Long QT syndrome 12'">Long QT syndrome 12</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3150733[DISCUI]&test_type=Clinical" ref="ncbi_uid=462083">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=462083" target="_blank" href="/omim/600734">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1129/" ref="ncbi_uid=462083">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=462083" ref="ncbi_uid=462083">V</a></span></span><span class="TLline"><a href="/medgen/462083" ref="tree=GTR&ncbi_uid=462083&link_uid=462083" title="View MedGen record for 'Long QT syndrome 13'">Long QT syndrome 13</a></span></li></ul></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0022387[DISCUI]&test_type=Clinical" ref="ncbi_uid=5929">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=5929" target="_blank" href="/omim/220400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1405/" ref="ncbi_uid=5929">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=5929" ref="ncbi_uid=5929">V</a></span></span><span class="TLline">Jervell and Lange-Nielsen syndrome</span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/685787" ref="tree=MeSH" title="MedGen record for Congenital long QT syndrome">Congenital long QT syndrome</a></span><ul><li><span class="matched_ds">Jervell and Lange-Nielsen syndrome</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=12056&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Jervell and Lange-Nielsen syndrome</span> in Orphanet.</div></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36422233">Long QT Syndrome Management during and after Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcinkeviciene A,
|
||
Rinkuniene D,
|
||
Puodziukynas A</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Nov 21;58(11)
|
||
doi: 10.3390/medicina58111694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36422233" target="_blank">36422233</a><a href="/pmc/articles/PMC9696301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34433113">Genetic testing hearing loss: The challenge of non syndromic mimics.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gooch C,
|
||
Rudy N,
|
||
Smith RJ,
|
||
Robin NH</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2021 Nov;150:110872.
|
||
Epub 2021 Aug 16
|
||
doi: 10.1016/j.ijporl.2021.110872.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34433113" target="_blank">34433113</a><a href="/pmc/articles/PMC8560556" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15929465">Cardiac causes of sudden unexpected death in children and their relationship to seizures and syncope: genetic testing for cardiac electropathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2005 Mar;12(1):52-8.
|
||
doi: 10.1016/j.spen.2005.02.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15929465" target="_blank">15929465</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22jervell%20and%20lange-nielsen%20syndrome%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (5)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39692650">The history of Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hem E,
|
||
Gjesdal KT,
|
||
Tranebjærg L,
|
||
Nylenna M</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2024 Dec 17;144(15)
|
||
Epub 2024 Dec 16
|
||
doi: 10.4045/tidsskr.24.0412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39692650" target="_blank">39692650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36422233">Long QT Syndrome Management during and after Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcinkeviciene A,
|
||
Rinkuniene D,
|
||
Puodziukynas A</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Nov 21;58(11)
|
||
doi: 10.3390/medicina58111694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36422233" target="_blank">36422233</a><a href="/pmc/articles/PMC9696301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25459999">Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaba P,
|
||
Bos JM,
|
||
Shah MJ,
|
||
Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2014 Dec;11(12):2310-3.
|
||
doi: 10.1016/j.hrthm.2014.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25459999" target="_blank">25459999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19862833">The genetic basis of long QT and short QT syndromes: a mutation update.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hedley PL,
|
||
Jørgensen P,
|
||
Schlamowitz S,
|
||
Wangari R,
|
||
Moolman-Smook J,
|
||
Brink PA,
|
||
Kanters JK,
|
||
Corfield VA,
|
||
Christiansen M</span><br />
|
||
<span class="medgenPMjournal">Hum Mutat</span>
|
||
2009 Nov;30(11):1486-511.
|
||
doi: 10.1002/humu.21106.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19862833" target="_blank">19862833</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10704188">Jervell and Lange-Nielsen syndrome: a Norwegian perspective.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tranebjaerg L,
|
||
Bathen J,
|
||
Tyson J,
|
||
Bitner-Glindzicz M</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet</span>
|
||
1999 Sep 24;89(3):137-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10704188" target="_blank">10704188</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (51)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39692650">The history of Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hem E,
|
||
Gjesdal KT,
|
||
Tranebjærg L,
|
||
Nylenna M</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2024 Dec 17;144(15)
|
||
Epub 2024 Dec 16
|
||
doi: 10.4045/tidsskr.24.0412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39692650" target="_blank">39692650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34165182">Novel polygenetic variants evidenced in a patient with Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cepeda-Nieto AC,
|
||
Zamora-Alemán CR,
|
||
Cortes-Aguirre M,
|
||
Valdés-Charles R,
|
||
Rojas-Sánchez C,
|
||
Salinas-Santander MA,
|
||
Hu D,
|
||
Barajas-Martinez H</span><br />
|
||
<span class="medgenPMjournal">Cardiol J</span>
|
||
2021;28(5):786-789.
|
||
Epub 2021 Jun 24
|
||
doi: 10.5603/CJ.a2021.0063.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34165182" target="_blank">34165182</a><a href="/pmc/articles/PMC8428931" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26108145">Genetics of long-QT syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nakano Y,
|
||
Shimizu W</span><br />
|
||
<span class="medgenPMjournal">J Hum Genet</span>
|
||
2016 Jan;61(1):51-5.
|
||
Epub 2015 Jun 25
|
||
doi: 10.1038/jhg.2015.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26108145" target="_blank">26108145</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25459999">Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaba P,
|
||
Bos JM,
|
||
Shah MJ,
|
||
Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2014 Dec;11(12):2310-3.
|
||
doi: 10.1016/j.hrthm.2014.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25459999" target="_blank">25459999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1917338">The Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cusimano F,
|
||
Martines E,
|
||
Rizzo C</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
1991 Jul;22(1):49-58.
|
||
doi: 10.1016/0165-5876(91)90096-t.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1917338" target="_blank">1917338</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20AND%20Diagnosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (70)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36422233">Long QT Syndrome Management during and after Pregnancy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marcinkeviciene A,
|
||
Rinkuniene D,
|
||
Puodziukynas A</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2022 Nov 21;58(11)
|
||
doi: 10.3390/medicina58111694.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36422233" target="_blank">36422233</a><a href="/pmc/articles/PMC9696301" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33514733">Gene therapy via canalostomy approach preserves auditory and vestibular functions in a mouse model of Jervell and Lange-Nielsen syndrome type 2.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wu X,
|
||
Zhang L,
|
||
Li Y,
|
||
Zhang W,
|
||
Wang J,
|
||
Cai C,
|
||
Lin X</span><br />
|
||
<span class="medgenPMjournal">Nat Commun</span>
|
||
2021 Jan 29;12(1):697.
|
||
doi: 10.1038/s41467-020-20808-7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33514733" target="_blank">33514733</a><a href="/pmc/articles/PMC7846845" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26205899">Jervell and Lange-Nielsen syndrome in cochlear implanted patients: our experience and a review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Eftekharian A,
|
||
Mahani MH</span><br />
|
||
<span class="medgenPMjournal">Int J Pediatr Otorhinolaryngol</span>
|
||
2015 Sep;79(9):1544-7.
|
||
Epub 2015 Jul 14
|
||
doi: 10.1016/j.ijporl.2015.07.012.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26205899" target="_blank">26205899</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25459999">Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaba P,
|
||
Bos JM,
|
||
Shah MJ,
|
||
Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2014 Dec;11(12):2310-3.
|
||
doi: 10.1016/j.hrthm.2014.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25459999" target="_blank">25459999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24268954">Left thoracoscopic sympathectomy for cardiac denervation in patients with life-threatening ventricular arrhythmias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hofferberth SC,
|
||
Cecchin F,
|
||
Loberman D,
|
||
Fynn-Thompson F</span><br />
|
||
<span class="medgenPMjournal">J Thorac Cardiovasc Surg</span>
|
||
2014 Jan;147(1):404-9.
|
||
Epub 2013 Oct 24
|
||
doi: 10.1016/j.jtcvs.2013.07.064.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24268954" target="_blank">24268954</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20AND%20Therapy%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (21)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/27041150">KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vyas B,
|
||
Puri RD,
|
||
Namboodiri N,
|
||
Nair M,
|
||
Sharma D,
|
||
Movva S,
|
||
Saxena R,
|
||
Bohora S,
|
||
Aggarwal N,
|
||
Vora A,
|
||
Kumar J,
|
||
Singh T,
|
||
Verma IC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Jun;170(6):1510-9.
|
||
Epub 2016 Apr 4
|
||
doi: 10.1002/ajmg.a.37636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27041150" target="_blank">27041150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25459999">Device explantation following overdiagnosed and overtreated Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gaba P,
|
||
Bos JM,
|
||
Shah MJ,
|
||
Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Heart Rhythm</span>
|
||
2014 Dec;11(12):2310-3.
|
||
doi: 10.1016/j.hrthm.2014.10.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25459999" target="_blank">25459999</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16461811">The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz PJ,
|
||
Spazzolini C,
|
||
Crotti L,
|
||
Bathen J,
|
||
Amlie JP,
|
||
Timothy K,
|
||
Shkolnikova M,
|
||
Berul CI,
|
||
Bitner-Glindzicz M,
|
||
Toivonen L,
|
||
Horie M,
|
||
Schulze-Bahr E,
|
||
Denjoy I</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2006 Feb 14;113(6):783-90.
|
||
Epub 2006 Feb 6
|
||
doi: 10.1161/CIRCULATIONAHA.105.592899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16461811" target="_blank">16461811</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9848024">Molecular genetics of long-QT syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wattanasirichaigoon D,
|
||
Beggs AH</span><br />
|
||
<span class="medgenPMjournal">Curr Opin Pediatr</span>
|
||
1998 Dec;10(6):628-34.
|
||
doi: 10.1097/00008480-199810060-00016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9848024" target="_blank">9848024</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9654946">The long QT syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ackerman MJ</span><br />
|
||
<span class="medgenPMjournal">Pediatr Rev</span>
|
||
1998 Jul;19(7):232-8.
|
||
doi: 10.1542/pir.19-7-232.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9654946" target="_blank">9654946</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20AND%20Prognosis%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (24)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39692650">The history of Jervell and Lange-Nielsen syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hem E,
|
||
Gjesdal KT,
|
||
Tranebjærg L,
|
||
Nylenna M</span><br />
|
||
<span class="medgenPMjournal">Tidsskr Nor Laegeforen</span>
|
||
2024 Dec 17;144(15)
|
||
Epub 2024 Dec 16
|
||
doi: 10.4045/tidsskr.24.0412.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39692650" target="_blank">39692650</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35806392">Mutation-Specific Differences in Kv7.1 (KCNQ1) and Kv11.1 (KCNH2) Channel Dysfunction and Long QT Syndrome Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kekenes-Huskey PM,
|
||
Burgess DE,
|
||
Sun B,
|
||
Bartos DC,
|
||
Rozmus ER,
|
||
Anderson CL,
|
||
January CT,
|
||
Eckhardt LL,
|
||
Delisle BP</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2022 Jul 2;23(13)
|
||
doi: 10.3390/ijms23137389.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35806392" target="_blank">35806392</a><a href="/pmc/articles/PMC9266926" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33830046">Clinical and genetic characteristics and course of congenital long QT syndrome in children: A nine-year single-center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ergül Y,
|
||
Tunca Şahin G,
|
||
Kafalı HC,
|
||
Öztürk E,
|
||
Özgür S,
|
||
Haydin S,
|
||
Güzeltaş A</span><br />
|
||
<span class="medgenPMjournal">Anatol J Cardiol</span>
|
||
2021 Apr;25(4):250-257.
|
||
doi: 10.14744/AnatolJCardiol.2020.08791.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33830046" target="_blank">33830046</a><a href="/pmc/articles/PMC8923495" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27041150">KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vyas B,
|
||
Puri RD,
|
||
Namboodiri N,
|
||
Nair M,
|
||
Sharma D,
|
||
Movva S,
|
||
Saxena R,
|
||
Bohora S,
|
||
Aggarwal N,
|
||
Vora A,
|
||
Kumar J,
|
||
Singh T,
|
||
Verma IC</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2016 Jun;170(6):1510-9.
|
||
Epub 2016 Apr 4
|
||
doi: 10.1002/ajmg.a.37636.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27041150" target="_blank">27041150</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16461811">The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schwartz PJ,
|
||
Spazzolini C,
|
||
Crotti L,
|
||
Bathen J,
|
||
Amlie JP,
|
||
Timothy K,
|
||
Shkolnikova M,
|
||
Berul CI,
|
||
Bitner-Glindzicz M,
|
||
Toivonen L,
|
||
Horie M,
|
||
Schulze-Bahr E,
|
||
Denjoy I</span><br />
|
||
<span class="medgenPMjournal">Circulation</span>
|
||
2006 Feb 14;113(6):783-90.
|
||
Epub 2006 Feb 6
|
||
doi: 10.1161/CIRCULATIONAHA.105.592899.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16461811" target="_blank">16461811</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (29)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33136028">Outcomes of Cochlear Implantation in Patients with Jervell and Lange-Nielsen Syndrome: A Systematic Review and Narrative Synthesis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Metcalfe C,
|
||
Muzaffar J,
|
||
Monksfield P,
|
||
Bance M</span><br />
|
||
<span class="medgenPMjournal">J Int Adv Otol</span>
|
||
2020 Dec;16(3):456-462.
|
||
doi: 10.5152/iao.2020.9025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33136028" target="_blank">33136028</a><a href="/pmc/articles/PMC7901465" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Jervell%20and%20Lange-Nielsen%20syndrome%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
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|
||
</div>
|
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<div class=" bottom">
|
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|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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|
||
<div class="portlet mgSection" id="ID_106">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0022387%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (26)</a></li>
|
||
<li><a href="/gtr/tests?term=C0022387%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0022387%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (27)</a></li>
|
||
<li><a href="/gtr/tests?term=C0022387%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (4)</a></li>
|
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0022387%5bDISCUI%5d" target="_blank">See all (30)</a></total></li>
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