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<meta name="keywords" content="C1858680, disease or syndrome, encephalopathy, familial, with collins bodies, encephalopathy, familial, with neuroserpin inclusion bodies, familial dementia with neuroserpin inclusion bodies, familial encephalopathy with neuroserpin inclusion bodies, fenib, fenib familiar encephalopathy with neuroserpin inclusion bodies, serpini1, 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="Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is an autosomal dominant disorder characterized by progressive epilepsy and dementia. Onset of symptoms ranges from the second to fifth decades of life. Severity is variable (summary by Molinari et al., 2003)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=346965
|
||
ConceptID=C1858680
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Familial encephalopathy with neuroserpin inclusion bodies<span class="h1sub">(FENIB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346965</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."><span class="highlight" style="background-color:">C1858680</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>ENCEPHALOPATHY, FAMILIAL, WITH COLLINS BODIES</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Familial encephalopathy with neuroserpin inclusion bodies (702421006); Familial dementia with neuroserpin inclusion bodies (702421006)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141047"><div><strong>Autosomal dominant inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141047</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.">C0443147</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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141047" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal dominant inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="SERPINI1 - ID: 5274 - NCBI Gene" href="/gene/5274" class="medgenPMinfo">SERPINI1</a> (3q26.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0011412" target="_blank">MONDO:0011412</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/604218" target="_blank">604218</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=85110">ORPHA85110</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_100">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is an autosomal dominant disorder characterized by progressive epilepsy and dementia. Onset of symptoms ranges from the second to fifth decades of life. Severity is variable (summary by Molinari et al., 2003). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<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 />Familial encephalopathy with neuroserpin inclusion bodies (FENIB) is a disorder that causes progressive dysfunction of the brain (encephalopathy). It is characterized by a loss of intellectual functioning (dementia) and seizures. At first, affected individuals may have difficulty sustaining attention and concentrating. They may experience repetitive thoughts, speech, or movements. As the condition progresses, their personality changes and judgment, insight, and memory become impaired. Affected people lose the ability to perform the activities of daily living, and most eventually require comprehensive care.<br /><br />The signs and symptoms of FENIB vary in their severity and age of onset. In severe cases, the condition causes seizures and episodes of sudden, involuntary muscle jerking or twitching (myoclonus) in addition to dementia. These signs can appear as early as a person's teens. Less severe cases are characterized by a progressive decline in intellectual functioning beginning in a person's forties or fifties. <a target="_blank" href="https://medlineplus.gov/genetics/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies">https://medlineplus.gov/genetics/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_8510"><div><strong>Dysarthria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8510</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.">C0013362</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/8510">Feature record</a> | <a href="/medgen?term=%22Dysarthria%22%5BClinical%20Features%5D%20OR%208510%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4899"><div><strong>Gliosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4899</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.">C0017639</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Gliosis is the focal proliferation of glial cells in the central nervous system.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4899">Feature record</a> | <a href="/medgen?term=%22Gliosis%22%5BClinical%20Features%5D%20OR%204899%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</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.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_39314"><div><strong>Encephalopathy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>39314</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.">C0085584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Encephalopathy is a term that means brain disease, damage, or malfunction. In general, encephalopathy is manifested by an altered mental state.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/39314">Feature record</a> | <a href="/medgen?term=%22Encephalopathy%22%5BClinical%20Features%5D%20OR%2039314%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_115941"><div><strong>Abnormality of extrapyramidal motor function</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>115941</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.">C0234133</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/115941">Feature record</a> | <a href="/medgen?term=%22Abnormality%20of%20extrapyramidal%20motor%20function%22%5BClinical%20Features%5D%20OR%20115941%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_116012"><div><strong>Cerebral atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>116012</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.">C0235946</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/116012">Feature record</a> | <a href="/medgen?term=%22Cerebral%20atrophy%22%5BClinical%20Features%5D%20OR%20116012%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_99229"><div><strong>Dementia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>99229</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.">C0497327</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/99229">Feature record</a> | <a href="/medgen?term=%22Dementia%22%5BClinical%20Features%5D%20OR%2099229%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_335722"><div><strong>Distal sensory impairment</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>335722</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.">C1847584</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal reduction in sensation in the distal portions of the extremities.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/335722">Feature record</a> | <a href="/medgen?term=%22Distal%20sensory%20impairment%22%5BClinical%20Features%5D%20OR%20335722%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_342515"><div><strong>Neuronal loss in central nervous system</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>342515</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.">C1850496</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/342515">Feature record</a> | <a href="/medgen?term=%22Neuronal%20loss%20in%20central%20nervous%20system%22%5BClinical%20Features%5D%20OR%20342515%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1053951"><div><strong>Eosinophilic neuronal inclusion bodies</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1053951</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN378411</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons that stain with eosin, a red or pink dye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1053951">Feature record</a> | <a href="/medgen?term=%22Eosinophilic%20neuronal%20inclusion%20bodies%22%5BClinical%20Features%5D%20OR%201053951%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_41600"><div><strong>Diplopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>41600</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.">C0012569</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Diplopia is a condition in which a single object is perceived as two images, it is also known as double vision.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/41600">Feature record</a> | <a href="/medgen?term=%22Diplopia%22%5BClinical%20Features%5D%20OR%2041600%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_45166"><div><strong>Nystagmus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>45166</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.">C0028738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/45166">Feature record</a> | <a href="/medgen?term=%22Nystagmus%22%5BClinical%20Features%5D%20OR%2045166%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_41600" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Diplopia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_45166" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Nystagmus</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_115941" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Abnormality of extrapyramidal motor function</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_116012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_99229" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dementia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_335722" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Distal sensory impairment</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dysarthria</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_39314" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Encephalopathy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1053951" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Eosinophilic neuronal inclusion bodies</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4899" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gliosis</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_342515" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neuronal loss in central nervous system</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li></ul></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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1858680[DISCUI]&test_type=Clinical" ref="ncbi_uid=346965">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=346965" target="_blank" href="/omim/602445">O</a></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=346965" ref="ncbi_uid=346965">V</a></span></span><span class="TLline">Familial encephalopathy with neuroserpin inclusion bodies</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/232130" ref="tree=MeSH" title="MedGen record for Disorder by Site">Disorder by Site</a></span><ul><li><span class="TLline"><a href="/medgen/14336" ref="tree=MeSH" title="MedGen record for Disorder of nervous system">Disorder of nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/3306" ref="tree=MeSH" title="MedGen record for Disorder of the central nervous system">Disorder of the central nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/14214" ref="tree=MeSH" title="MedGen record for Brain disorder">Brain disorder</a></span><ul><li><span class="TLline"><a href="/medgen/4506" ref="tree=MeSH" title="MedGen record for Epilepsy">Epilepsy</a></span><ul><li><span class="TLline"><a href="/medgen/199732" ref="tree=MeSH" title="MedGen record for Progressive myoclonic epilepsy">Progressive myoclonic epilepsy</a></span><ul><li><span class="matched_ds">Familial encephalopathy with neuroserpin inclusion bodies</span><ul><li><span class="TLline"><a href="/medgen/1842194" ref="tree=MeSH" title="MedGen record for Progressive dementia with neuroserpin inclusion bodies">Progressive dementia with neuroserpin inclusion bodies</a></span></li><li><span class="TLline"><a href="/medgen/1842353" ref="tree=MeSH" title="MedGen record for Progressive myoclonic epilepsy with neuroserpin inclusion bodies">Progressive myoclonic epilepsy with neuroserpin inclusion bodies</a></span></li></ul></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=11622&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Familial encephalopathy with neuroserpin inclusion bodies</span> in Orphanet.</div></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/21624056">Unravelling the twists and turns of the serpinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Roussel BD,
|
||
Irving JA,
|
||
Ekeowa UI,
|
||
Belorgey D,
|
||
Haq I,
|
||
Ordóñez A,
|
||
Kruppa AJ,
|
||
Duvoix A,
|
||
Rashid ST,
|
||
Crowther DC,
|
||
Marciniak SJ,
|
||
Lomas DA</span><br />
|
||
<span class="medgenPMjournal">FEBS J</span>
|
||
2011 Oct;278(20):3859-67.
|
||
Epub 2011 Jun 20
|
||
doi: 10.1111/j.1742-4658.2011.08201.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21624056" target="_blank">21624056</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21115126">Characterisation of serpin polymers in vitro and in vivo.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belorgey D,
|
||
Irving JA,
|
||
Ekeowa UI,
|
||
Freeke J,
|
||
Roussel BD,
|
||
Miranda E,
|
||
Pérez J,
|
||
Robinson CV,
|
||
Marciniak SJ,
|
||
Crowther DC,
|
||
Michel CH,
|
||
Lomas DA</span><br />
|
||
<span class="medgenPMjournal">Methods</span>
|
||
2011 Mar;53(3):255-66.
|
||
Epub 2010 Nov 27
|
||
doi: 10.1016/j.ymeth.2010.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21115126" target="_blank">21115126</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16011217">Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lomas DA</span><br />
|
||
<span class="medgenPMjournal">Clin Med (Lond)</span>
|
||
2005 May-Jun;5(3):249-57.
|
||
doi: 10.7861/clinmedicine.5-3-249.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16011217" target="_blank">16011217</a><a href="/pmc/articles/PMC4952210" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15353322">Polymerisation underlies alpha1-antitrypsin deficiency, dementia and other serpinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lomas DA,
|
||
Belorgey D,
|
||
Mallya M,
|
||
Onda M,
|
||
Kinghorn KJ,
|
||
Sharp LK,
|
||
Phillips RL,
|
||
Page R,
|
||
Crowther DC,
|
||
Miranda E</span><br />
|
||
<span class="medgenPMjournal">Front Biosci</span>
|
||
2004 Sep 1;9:2873-91.
|
||
doi: 10.2741/1444.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15353322" target="_blank">15353322</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38166833">Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Handa H,
|
||
Sugiyama A,
|
||
Kaname T,
|
||
Shigemoto Y,
|
||
Sato N,
|
||
Hirano S,
|
||
Nakagawa Y,
|
||
Uzawa A,
|
||
Aotsuka A,
|
||
Kuwabara S</span><br />
|
||
<span class="medgenPMjournal">BMC Neurol</span>
|
||
2024 Jan 2;24(1):9.
|
||
doi: 10.1186/s12883-023-03511-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38166833" target="_blank">38166833</a><a href="/pmc/articles/PMC10759324" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36417830">Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Fang Z,
|
||
Yan L,
|
||
He X,
|
||
Luo H,
|
||
Han Z,
|
||
Gui J,
|
||
Cheng M,
|
||
Jiang L</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Dec;103:137-147.
|
||
Epub 2022 Nov 13
|
||
doi: 10.1016/j.seizure.2022.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36417830" target="_blank">36417830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/18267959">The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miranda E,
|
||
MacLeod I,
|
||
Davies MJ,
|
||
Pérez J,
|
||
Römisch K,
|
||
Crowther DC,
|
||
Lomas DA</span><br />
|
||
<span class="medgenPMjournal">Hum Mol Genet</span>
|
||
2008 Jun 1;17(11):1527-39.
|
||
Epub 2008 Feb 11
|
||
doi: 10.1093/hmg/ddn041.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18267959" target="_blank">18267959</a><a href="/pmc/articles/PMC2387220" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14694355">Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crowther DC,
|
||
Belorgey D,
|
||
Miranda E,
|
||
Kinghorn KJ,
|
||
Sharp LK,
|
||
Lomas DA</span><br />
|
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<span class="medgenPMjournal">Eur J Hum Genet</span>
|
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2004 Mar;12(3):167-72.
|
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doi: 10.1038/sj.ejhg.5201127.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14694355" target="_blank">14694355</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies%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 (4)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/18940798">Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Takasawa A,
|
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Kato I,
|
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Takasawa K,
|
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Ishii Y,
|
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Yoshida T,
|
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Shehata MH,
|
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Kawaguchi H,
|
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Mohafez OM,
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Sasahara M,
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Hiraga K</span><br />
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<span class="medgenPMjournal">J Biol Chem</span>
|
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2008 Dec 19;283(51):35606-13.
|
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Epub 2008 Oct 21
|
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doi: 10.1074/jbc.M804125200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/18940798" target="_blank">18940798</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/26367528">Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moriconi C,
|
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Ordoñez A,
|
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Lupo G,
|
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Gooptu B,
|
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Irving JA,
|
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Noto R,
|
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Martorana V,
|
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Manno M,
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Timpano V,
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Guadagno NA,
|
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Dalton L,
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Marciniak SJ,
|
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Lomas DA,
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Miranda E</span><br />
|
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<span class="medgenPMjournal">FEBS J</span>
|
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2015 Dec;282(23):4565-79.
|
||
Epub 2015 Oct 3
|
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doi: 10.1111/febs.13517.
|
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<span class="bold">PMID: </span><a href="/pubmed/26367528" target="_blank">26367528</a><a href="/pmc/articles/PMC4949553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26329378">The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Noto R,
|
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Randazzo L,
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Raccosta S,
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Caccia S,
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Moriconi C,
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Miranda E,
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Martorana V,
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Manno M</span><br />
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<span class="medgenPMjournal">Sci Rep</span>
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2015 Sep 2;5:13666.
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doi: 10.1038/srep13666.
|
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<span class="bold">PMID: </span><a href="/pubmed/26329378" target="_blank">26329378</a><a href="/pmc/articles/PMC4556959" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17392169">Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galliciotti G,
|
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Glatzel M,
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Kinter J,
|
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Kozlov SV,
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Cinelli P,
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Rülicke T,
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Sonderegger P</span><br />
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<span class="medgenPMjournal">Am J Pathol</span>
|
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2007 Apr;170(4):1305-13.
|
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doi: 10.2353/ajpath.2007.060910.
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<span class="bold">PMID: </span><a href="/pubmed/17392169" target="_blank">17392169</a><a href="/pmc/articles/PMC1829463" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/15291813">Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Belorgey D,
|
||
Sharp LK,
|
||
Crowther DC,
|
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Onda M,
|
||
Johansson J,
|
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Lomas DA</span><br />
|
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<span class="medgenPMjournal">Eur J Biochem</span>
|
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2004 Aug;271(16):3360-7.
|
||
doi: 10.1111/j.1432-1033.2004.04270.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/15291813" target="_blank">15291813</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10517635">Familial dementia caused by polymerization of mutant neuroserpin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Davis RL,
|
||
Shrimpton AE,
|
||
Holohan PD,
|
||
Bradshaw C,
|
||
Feiglin D,
|
||
Collins GH,
|
||
Sonderegger P,
|
||
Kinter J,
|
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Becker LM,
|
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Lacbawan F,
|
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Krasnewich D,
|
||
Muenke M,
|
||
Lawrence DA,
|
||
Yerby MS,
|
||
Shaw CM,
|
||
Gooptu B,
|
||
Elliott PR,
|
||
Finch JT,
|
||
Carrell RW,
|
||
Lomas DA</span><br />
|
||
<span class="medgenPMjournal">Nature</span>
|
||
1999 Sep 23;401(6751):376-9.
|
||
doi: 10.1038/43894.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10517635" target="_blank">10517635</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies%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 (5)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36417830">Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yang X,
|
||
Fang Z,
|
||
Yan L,
|
||
He X,
|
||
Luo H,
|
||
Han Z,
|
||
Gui J,
|
||
Cheng M,
|
||
Jiang L</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2022 Dec;103:137-147.
|
||
Epub 2022 Nov 13
|
||
doi: 10.1016/j.seizure.2022.11.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36417830" target="_blank">36417830</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33888787">G392E neuroserpin causing the dementia FENIB is secreted from cells but is not synaptotoxic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ingwersen T,
|
||
Linnenberg C,
|
||
D'Acunto E,
|
||
Temori S,
|
||
Paolucci I,
|
||
Wasilewski D,
|
||
Mohammadi B,
|
||
Kirchmair J,
|
||
Glen RC,
|
||
Miranda E,
|
||
Glatzel M,
|
||
Galliciotti G</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2021 Apr 22;11(1):8766.
|
||
doi: 10.1038/s41598-021-88090-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33888787" target="_blank">33888787</a><a href="/pmc/articles/PMC8062559" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32375228">Glycosylation Tunes Neuroserpin Physiological and Pathological Properties.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Visentin C,
|
||
Broggini L,
|
||
Sala BM,
|
||
Russo R,
|
||
Barbiroli A,
|
||
Santambrogio C,
|
||
Nonnis S,
|
||
Dubnovitsky A,
|
||
Bolognesi M,
|
||
Miranda E,
|
||
Achour A,
|
||
Ricagno S</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2020 May 3;21(9)
|
||
doi: 10.3390/ijms21093235.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32375228" target="_blank">32375228</a><a href="/pmc/articles/PMC7247563" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26367528">Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moriconi C,
|
||
Ordoñez A,
|
||
Lupo G,
|
||
Gooptu B,
|
||
Irving JA,
|
||
Noto R,
|
||
Martorana V,
|
||
Manno M,
|
||
Timpano V,
|
||
Guadagno NA,
|
||
Dalton L,
|
||
Marciniak SJ,
|
||
Lomas DA,
|
||
Miranda E</span><br />
|
||
<span class="medgenPMjournal">FEBS J</span>
|
||
2015 Dec;282(23):4565-79.
|
||
Epub 2015 Oct 3
|
||
doi: 10.1111/febs.13517.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26367528" target="_blank">26367528</a><a href="/pmc/articles/PMC4949553" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16782060">A rat model of human FENIB (familial encephalopathy with neuroserpin inclusion bodies).</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Takano K,
|
||
Kitao Y,
|
||
Inagi R,
|
||
Momoi T,
|
||
Matsuyama T,
|
||
Miyata T,
|
||
Yoneda Y,
|
||
Iso H,
|
||
Stern DM,
|
||
Hori O,
|
||
Ogawa S</span><br />
|
||
<span class="medgenPMjournal">Biochem Biophys Res Commun</span>
|
||
2006 Aug 4;346(3):1040-7.
|
||
Epub 2006 Jun 12
|
||
doi: 10.1016/j.bbrc.2006.06.016.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16782060" target="_blank">16782060</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies%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 (14)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</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">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<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=C1858680%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (15)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858680%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (18)</a></li>
|
||
<li><a href="/gtr/tests?term=C1858680%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1858680%5bDISCUI%5d" target="_blank">See all (18)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=604218" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85110" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=602445" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=5274[geneid]" target="_blank">View SERPINI1 variations in ClinVar</a></li><li><a href="/nuccore/194239734" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=604218" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Familial+Encephalopathy+with+Neuroserpin+Inclusion+Bodies/2743" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/encephalopathy_familial_with_neuroserpin_inclusion_bodies" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/10037/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Familial%20encephalopathy%20with%20neuroserpin%20inclusion%20bodies%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=346965" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gene?LinkName=medgen_gene_diseases&from_uid=346965" ref="log$=recordlinks">Gene</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in NCBI Gene</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1858680[DISCUI]" ref="log$=recordlinks">GTR</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related information in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1858680[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
|
||
<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/mesh?LinkName=medgen_mesh&from_uid=346965" ref="log$=recordlinks">MeSH</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related Medical Subject Headings</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim&from_uid=346965" ref="log$=recordlinks">OMIM</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related records in OMIM</div>
|
||
</li>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/omim?LinkName=medgen_omim_gene&from_uid=346965" ref="log$=recordlinks">OMIM(Genes)</a>
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<a href="https://www.google.com/maps/place/8600+Rockville+Pike,+Bethesda,+MD+20894/@38.9959508,-77.101021,17z/data=!3m1!4b1!4m5!3m4!1s0x89b7c95e25765ddb:0x19156f88b27635b8!8m2!3d38.9959508!4d-77.0988323" class="text-white" target="_blank" rel="noopener noreferrer">8600 Rockville Pike<br />
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Bethesda, MD 20894</a></p>
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