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<meta name="keywords" content="C3553291, disease or syndrome, glrb, glrb hereditary hyperekplexia, glrb-related hyperekplexia, hereditary hyperekplexia caused by mutation in glrb, hkpx2, hyperekplexia 2, hyperekplexia type 2, 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="Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.\n\nOther signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).\n\nThe signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.\n\nHereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=766205
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ConceptID=C3553291
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hyperekplexia 2<span class="h1sub">(HKPX2)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>766205</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:">C3553291</span></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>GLRB-Related Hyperekplexia; HKPX2</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="GLRB - ID: 2743 - NCBI Gene" href="/gene/2743" class="medgenPMinfo">GLRB</a> (4q32.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0013828" target="_blank">MONDO:0013828</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/614619" target="_blank">614619</a></td></tr>
|
||
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<div class="portlet mgSection" id="ID_100">
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<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>
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||
<div class="portlet_content ln">Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.<br /><br />Other signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).<br /><br />The signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. They may also continue to have hypnagogic myoclonus or movements during sleep. As they get older, individuals with this condition may have a low tolerance for crowded places and loud noises. People with hereditary hyperekplexia who have epilepsy have the seizure disorder throughout their lives.<br /><br />Hereditary hyperekplexia may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. [from <a title="MedlinePlus Genetics" href="https://medlineplus.gov/genetics/" class="defSource" target="_blank">MedlinePlus Genetics</a>]</div>
|
||
</div>
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|
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<div class="portlet mgSection" id="ID_102">
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<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_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</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.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%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_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_329357"><div><strong>Exaggerated startle response</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>329357</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.">C1740801</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An exaggerated startle reaction in response to a sudden unexpected visual or acoustic stimulus, or a quick movement near the face.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/329357">Feature record</a> | <a href="/medgen?term=%22Exaggerated%20startle%20response%22%5BClinical%20Features%5D%20OR%20329357%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_927587"><div><strong>Glabellar reflex</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>927587</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.">C4293678</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of primitive reflex that is elicited by repetitive tapping on the forehead. Normal subjects usually blink in response to the first several taps, but if blinking persists, the response is abnormal and considered to be a sign of frontal release. Persistent blinking is also known as Myerson's sign.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/927587">Feature record</a> | <a href="/medgen?term=%22Glabellar%20reflex%22%5BClinical%20Features%5D%20OR%20927587%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10132"><div><strong>Hypertonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10132</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.">C0026826</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10132">Feature record</a> | <a href="/medgen?term=%22Hypertonia%22%5BClinical%20Features%5D%20OR%2010132%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_113151"><div><strong>Muscle stiffness</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>113151</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.">C0221170</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which muscles cannot be moved quickly without accompanying pain or spasm.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/113151">Feature record</a> | <a href="/medgen?term=%22Muscle%20stiffness%22%5BClinical%20Features%5D%20OR%20113151%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_483347"><div><strong>Hiatus hernia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>483347</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.">C3489393</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Acquired Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of a hernia in which the upper part of the stomach, i.e., mainly the gastric cardia protrudes through the diaphragmatic esophageal hiatus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen?term=%22Hiatus%20hernia%22%5BClinical%20Features%5D%20OR%20483347%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_866900"><div><strong>Increased fetal movement</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>866900</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.">C4021256</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormal increase in quantity or strength of fetal movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/866900">Feature record</a> | <a href="/medgen?term=%22Increased%20fetal%20movement%22%5BClinical%20Features%5D%20OR%20866900%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_2473"><div><strong>Astigmatism</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2473</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.">C0004106</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Astigmatism (from the Greek 'a' meaning absence and 'stigma' meaning point) is a condition in which the parallel rays of light entering the eye through the refractive media are not focused on a single point. Both corneal and noncorneal factors contribute to refractive astigmatism. Corneal astigmatism is mainly the result of an aspheric anterior surface of the cornea, which can be measured readily by means of a keratometer; in a small fraction of cases (approximately 1 in 10) the effect is neutralized by the back surface. The curvature of the back surface of the cornea is not considered in most studies, because it is more difficult to measure; moreover, in the case of severe corneal astigmatism, there is evidence that both surfaces have the same configuration. Noncorneal factors are errors in the curvature of the 2 surfaces of the crystalline lens, irregularity in the refractive index of the lens, and an eccentric lens position. Since the cornea is the dominant component of the eye's refracting system, a highly astigmatic cornea is likely to result in a similarly astigmatic ocular refraction (summary by Clementi et al., 1998).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/2473">Feature record</a> | <a href="/medgen?term=%22Astigmatism%22%5BClinical%20Features%5D%20OR%202473%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4550"><div><strong>Esotropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4550</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.">C0014877</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of strabismus with one or both eyes turned inward ('crossed') to a relatively severe degree, usually defined as 10 diopters or more.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4550">Feature record</a> | <a href="/medgen?term=%22Esotropia%22%5BClinical%20Features%5D%20OR%204550%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_44558"><div><strong>Myopia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>44558</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.">C0027092</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/44558">Feature record</a> | <a href="/medgen?term=%22Myopia%22%5BClinical%20Features%5D%20OR%2044558%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 prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_866900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Increased fetal movement</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</a></span></li></ul></li><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_2473" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Astigmatism</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4550" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Esotropia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_44558" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myopia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_483347" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hiatus hernia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10132" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypertonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_113151" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Muscle stiffness</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_329357" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exaggerated startle response</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_927587" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glabellar reflex</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</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></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></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=C0234166[DISCUI]&test_type=Clinical" ref="ncbi_uid=488800">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/NBK1260/" ref="ncbi_uid=488800">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=488800" ref="ncbi_uid=488800">V</a></span></span><span class="TLline"><a href="/medgen/488800" ref="tree=GTR&ncbi_uid=488800&link_uid=488800" title="View MedGen record for 'Hyperekplexia'">Hyperekplexia</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=C1845102[DISCUI]&test_type=Clinical" ref="ncbi_uid=375581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=375581" target="_blank" href="/omim/300429">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=375581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=375581" ref="ncbi_uid=375581">V</a></span></span><span class="TLline"><a href="/medgen/375581" ref="tree=GTR&ncbi_uid=375581&link_uid=375581" title="View MedGen record for 'Developmental and epileptic encephalopathy, 8'">Developmental and epileptic encephalopathy, 8</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=C1835614[DISCUI]&test_type=Clinical" ref="ncbi_uid=332019">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=332019" target="_blank" href="/omim/149400">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=332019" ref="ncbi_uid=332019">V</a></span></span><span class="TLline"><a href="/medgen/332019" ref="tree=GTR&ncbi_uid=332019&link_uid=332019" title="View MedGen record for 'Hereditary hyperekplexia'">Hereditary hyperekplexia</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=C4551954[DISCUI]&test_type=Clinical" ref="ncbi_uid=1647581">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1647581" target="_blank" href="/omim/149400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=1647581">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=1647581" ref="ncbi_uid=1647581">V</a></span></span><span class="TLline"><a href="/medgen/1647581" ref="tree=GTR&ncbi_uid=1647581&link_uid=1647581" title="View MedGen record for 'Hyperekplexia 1'">Hyperekplexia 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553291[DISCUI]&test_type=Clinical" ref="ncbi_uid=766205">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766205" target="_blank" href="/omim/138492">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=766205">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766205" ref="ncbi_uid=766205">V</a></span></span><span class="TLline">Hyperekplexia 2</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C3553288[DISCUI]&test_type=Clinical" ref="ncbi_uid=766202">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=766202" target="_blank" href="/omim/614618">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1260/" ref="ncbi_uid=766202">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=766202" ref="ncbi_uid=766202">V</a></span></span><span class="TLline"><a href="/medgen/766202" ref="tree=GTR&ncbi_uid=766202&link_uid=766202" title="View MedGen record for 'Hyperekplexia 3'">Hyperekplexia 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=C4693933[DISCUI]&test_type=Clinical" ref="ncbi_uid=1642659">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=1642659" target="_blank" href="/omim/614452">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=1642659" ref="ncbi_uid=1642659">V</a></span></span><span class="TLline"><a href="/medgen/1642659" ref="tree=GTR&ncbi_uid=1642659&link_uid=1642659" title="View MedGen record for 'Hyperekplexia 4'">Hyperekplexia 4</a></span></li></ul></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/4347" ref="tree=MeSH" title="MedGen record for Disease">Disease</a></span><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/488800" ref="tree=MeSH" title="MedGen record for Hyperekplexia">Hyperekplexia</a></span><ul><li><span class="TLline"><a href="/medgen/332019" ref="tree=MeSH" title="MedGen record for Hereditary hyperekplexia">Hereditary hyperekplexia</a></span><ul><li><span class="matched_ds">Hyperekplexia 2</span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<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/39693598">Clinical and Paraclinical Characterizations, Management, and Prognosis in DPPX Antibody-Associated Encephalitis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li EC,
|
||
Zhang TY,
|
||
Cai MT,
|
||
Su SY,
|
||
Shen CH,
|
||
Lai QL,
|
||
Zhang YX</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2025 Mar;12(2):e200350.
|
||
Epub 2024 Dec 18
|
||
doi: 10.1212/NXI.0000000000200350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39693598" target="_blank">39693598</a><a href="/pmc/articles/PMC11658814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39223854">Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falsaperla R,
|
||
Sortino V,
|
||
Giacchi V,
|
||
Saporito MAN,
|
||
Marino S,
|
||
Tardino LG,
|
||
Marino L,
|
||
Gennaro A,
|
||
Ruggieri M,
|
||
Barberi C,
|
||
Polizzi A</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Oct;39(11-12):415-424.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1177/08830738241273425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39223854" target="_blank">39223854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24030948">Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Thomas RH,
|
||
Chung SK,
|
||
Wood SE,
|
||
Cushion TD,
|
||
Drew CJ,
|
||
Hammond CL,
|
||
Vanbellinghen JF,
|
||
Mullins JG,
|
||
Rees MI</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2013 Oct;136(Pt 10):3085-95.
|
||
Epub 2013 Sep 11
|
||
doi: 10.1093/brain/awt207.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24030948" target="_blank">24030948</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hyperekplexia%202)%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 (6)</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/39051604">Hyperekplexia: A Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolu MH,
|
||
Öz Tunçer G,
|
||
Akça Ü,
|
||
Aydın S,
|
||
Bahadir O,
|
||
Sezer Ö,
|
||
Aksoy A,
|
||
Taşdemir HA</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Jun;39(7-8):260-267.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1177/08830738241263243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39051604" target="_blank">39051604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573299">Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia DI,
|
||
Gambardella ML,
|
||
Veltri S,
|
||
Contaldo I,
|
||
Chillemi G,
|
||
Veredice C,
|
||
Quintiliani M,
|
||
Leoni C,
|
||
Onesimo R,
|
||
Verdolotti T,
|
||
Radio FC,
|
||
Martinelli D,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Dravet C,
|
||
Tartaglia M,
|
||
Zampino G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 26;12(9)
|
||
doi: 10.3390/genes12091316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573299" target="_blank">34573299</a><a href="/pmc/articles/PMC8470450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25658214">Paroxysmal nonepileptic events in infancy, childhood, and adolescence.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Luat AF,
|
||
Kamat D,
|
||
Sivaswamy L</span><br />
|
||
<span class="medgenPMjournal">Pediatr Ann</span>
|
||
2015 Feb;44(2):e18-23.
|
||
doi: 10.3928/00904481-20150203-07.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25658214" target="_blank">25658214</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23283702">Latah: an Indonesian startle syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bakker MJ,
|
||
van Dijk JG,
|
||
Pramono A,
|
||
Sutarni S,
|
||
Tijssen MA</span><br />
|
||
<span class="medgenPMjournal">Mov Disord</span>
|
||
2013 Mar;28(3):370-9.
|
||
Epub 2013 Jan 2
|
||
doi: 10.1002/mds.25280.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23283702" target="_blank">23283702</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10771893">Myoclonus and epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fejerman N</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1997 Sep-Oct;64(5):583-602.
|
||
doi: 10.1007/BF02726110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10771893" target="_blank">10771893</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperekplexia%202%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 (26)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39223854">Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falsaperla R,
|
||
Sortino V,
|
||
Giacchi V,
|
||
Saporito MAN,
|
||
Marino S,
|
||
Tardino LG,
|
||
Marino L,
|
||
Gennaro A,
|
||
Ruggieri M,
|
||
Barberi C,
|
||
Polizzi A</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Oct;39(11-12):415-424.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1177/08830738241273425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39223854" target="_blank">39223854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573299">Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia DI,
|
||
Gambardella ML,
|
||
Veltri S,
|
||
Contaldo I,
|
||
Chillemi G,
|
||
Veredice C,
|
||
Quintiliani M,
|
||
Leoni C,
|
||
Onesimo R,
|
||
Verdolotti T,
|
||
Radio FC,
|
||
Martinelli D,
|
||
Trivisano M,
|
||
Specchio N,
|
||
Dravet C,
|
||
Tartaglia M,
|
||
Zampino G</span><br />
|
||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 26;12(9)
|
||
doi: 10.3390/genes12091316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573299" target="_blank">34573299</a><a href="/pmc/articles/PMC8470450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34266921">Teaching Video NeuroImage: Hereditary Hyperekplexia Mimicking Tonic Seizures in an Infant.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Neupert DG,
|
||
Rathke KM,
|
||
Mikati MA</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2021 Nov 30;97(22):e2248-e2249.
|
||
Epub 2021 Jul 15
|
||
doi: 10.1212/WNL.0000000000012538.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34266921" target="_blank">34266921</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25730860">Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moraga-Cid G,
|
||
Sauguet L,
|
||
Huon C,
|
||
Malherbe L,
|
||
Girard-Blanc C,
|
||
Petres S,
|
||
Murail S,
|
||
Taly A,
|
||
Baaden M,
|
||
Delarue M,
|
||
Corringer PJ</span><br />
|
||
<span class="medgenPMjournal">Proc Natl Acad Sci U S A</span>
|
||
2015 Mar 3;112(9):2865-70.
|
||
Epub 2015 Feb 17
|
||
doi: 10.1073/pnas.1417864112.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25730860" target="_blank">25730860</a><a href="/pmc/articles/PMC4352774" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24092290">Myoclonus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espay AJ,
|
||
Chen R</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2013 Oct;19(5 Movement Disorders):1264-86.
|
||
doi: 10.1212/01.CON.0000436156.54532.1a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24092290" target="_blank">24092290</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperekplexia%202%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 (54)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/29149236">Mutations affecting glycinergic neurotransmission in hyperekplexia increase pain sensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Vuilleumier PH,
|
||
Fritsche R,
|
||
Schliessbach J,
|
||
Schmitt B,
|
||
Arendt-Nielsen L,
|
||
Zeilhofer HU,
|
||
Curatolo M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2018 Jan 1;141(1):63-71.
|
||
doi: 10.1093/brain/awx289.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29149236" target="_blank">29149236</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24092290">Myoclonus.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Espay AJ,
|
||
Chen R</span><br />
|
||
<span class="medgenPMjournal">Continuum (Minneap Minn)</span>
|
||
2013 Oct;19(5 Movement Disorders):1264-86.
|
||
doi: 10.1212/01.CON.0000436156.54532.1a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24092290" target="_blank">24092290</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16601904">Severe normotensive metabolic alkalosis in a 2-month-old boy with hyperekplexia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Schlapbach LJ,
|
||
Sozzo A,
|
||
Ramelli G,
|
||
Bianchetti MG</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2006 Feb;29(1):238-9.
|
||
doi: 10.1007/s10545-006-0082-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16601904" target="_blank">16601904</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12359314">Statistical coassembly of glycine receptor alpha1 wildtype and the hyperekplexia mutant alpha1(P250T) in HEK 293 cells: impaired channel function is not dominant in the recombinant system.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breitinger HG,
|
||
Becker CM</span><br />
|
||
<span class="medgenPMjournal">Neurosci Lett</span>
|
||
2002 Oct 4;331(1):21-4.
|
||
doi: 10.1016/s0304-3940(02)00773-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12359314" target="_blank">12359314</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/7625544">Hyperekplexia, a cause of neonatal apnea: a case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gherpelli JL,
|
||
Nogueira AR Jr,
|
||
Troster EJ,
|
||
Deutsch AD,
|
||
Leoné CR,
|
||
Brotto MW,
|
||
Diament A,
|
||
Ramos JL</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1995 Mar-Apr;17(2):114-6.
|
||
doi: 10.1016/0387-7604(94)00113-c.
|
||
<span class="bold">PMID: </span><a href="/pubmed/7625544" target="_blank">7625544</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperekplexia%202%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 (24)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39693598">Clinical and Paraclinical Characterizations, Management, and Prognosis in DPPX Antibody-Associated Encephalitis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li EC,
|
||
Zhang TY,
|
||
Cai MT,
|
||
Su SY,
|
||
Shen CH,
|
||
Lai QL,
|
||
Zhang YX</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2025 Mar;12(2):e200350.
|
||
Epub 2024 Dec 18
|
||
doi: 10.1212/NXI.0000000000200350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39693598" target="_blank">39693598</a><a href="/pmc/articles/PMC11658814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39051604">Hyperekplexia: A Single-Center Experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dolu MH,
|
||
Öz Tunçer G,
|
||
Akça Ü,
|
||
Aydın S,
|
||
Bahadir O,
|
||
Sezer Ö,
|
||
Aksoy A,
|
||
Taşdemir HA</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Jun;39(7-8):260-267.
|
||
Epub 2024 Jul 25
|
||
doi: 10.1177/08830738241263243.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39051604" target="_blank">39051604</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35636282">Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraroli E,
|
||
Perulli M,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Quintiliani M,
|
||
Ricci M,
|
||
Venezia I,
|
||
Citrigno L,
|
||
Qualtieri A,
|
||
Spadafora P,
|
||
Cavalcanti F,
|
||
Battaglia DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 Jul;132:45-49.
|
||
Epub 2022 May 17
|
||
doi: 10.1016/j.pediatrneurol.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636282" target="_blank">35636282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11395484">Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breitinger HG,
|
||
Villmann C,
|
||
Becker K,
|
||
Becker CM</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2001 Aug 10;276(32):29657-63.
|
||
Epub 2001 Jun 6
|
||
doi: 10.1074/jbc.M100446200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11395484" target="_blank">11395484</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10771893">Myoclonus and epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fejerman N</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
1997 Sep-Oct;64(5):583-602.
|
||
doi: 10.1007/BF02726110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10771893" target="_blank">10771893</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperekplexia%202%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 (21)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35636282">Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraroli E,
|
||
Perulli M,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Quintiliani M,
|
||
Ricci M,
|
||
Venezia I,
|
||
Citrigno L,
|
||
Qualtieri A,
|
||
Spadafora P,
|
||
Cavalcanti F,
|
||
Battaglia DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 Jul;132:45-49.
|
||
Epub 2022 May 17
|
||
doi: 10.1016/j.pediatrneurol.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636282" target="_blank">35636282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34573299">Epilepsy and BRAF Mutations: Phenotypes, Natural History and Genotype-Phenotype Correlations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Battaglia DI,
|
||
Gambardella ML,
|
||
Veltri S,
|
||
Contaldo I,
|
||
Chillemi G,
|
||
Veredice C,
|
||
Quintiliani M,
|
||
Leoni C,
|
||
Onesimo R,
|
||
Verdolotti T,
|
||
Radio FC,
|
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Martinelli D,
|
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Trivisano M,
|
||
Specchio N,
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Dravet C,
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||
Tartaglia M,
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Zampino G</span><br />
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||
<span class="medgenPMjournal">Genes (Basel)</span>
|
||
2021 Aug 26;12(9)
|
||
doi: 10.3390/genes12091316.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34573299" target="_blank">34573299</a><a href="/pmc/articles/PMC8470450" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32170042">Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simard C,
|
||
Vogrig A,
|
||
Joubert B,
|
||
Muñiz-Castrillo S,
|
||
Picard G,
|
||
Rogemond V,
|
||
Ducray F,
|
||
Berzero G,
|
||
Psimaras D,
|
||
Antoine JC,
|
||
Desestret V,
|
||
Honnorat J</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2020 May;7(3)
|
||
Epub 2020 Mar 13
|
||
doi: 10.1212/NXI.0000000000000699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32170042" target="_blank">32170042</a><a href="/pmc/articles/PMC7136048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11521151">Patients with the major and minor form of hyperekplexia differ with regards to disynaptic reciprocal inhibition between ankle flexor and extensor muscles.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Crone C,
|
||
Nielsen J,
|
||
Petersen N,
|
||
Tijssen MA,
|
||
van Dijk JG</span><br />
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||
<span class="medgenPMjournal">Exp Brain Res</span>
|
||
2001 Sep;140(2):190-7.
|
||
doi: 10.1007/s002210100808.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11521151" target="_blank">11521151</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11395484">Opposing effects of molecular volume and charge at the hyperekplexia site alpha 1(P250) govern glycine receptor activation and desensitization.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Breitinger HG,
|
||
Villmann C,
|
||
Becker K,
|
||
Becker CM</span><br />
|
||
<span class="medgenPMjournal">J Biol Chem</span>
|
||
2001 Aug 10;276(32):29657-63.
|
||
Epub 2001 Jun 6
|
||
doi: 10.1074/jbc.M100446200.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11395484" target="_blank">11395484</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperekplexia%202%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 (27)</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/39693598">Clinical and Paraclinical Characterizations, Management, and Prognosis in DPPX Antibody-Associated Encephalitis: A Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Li EC,
|
||
Zhang TY,
|
||
Cai MT,
|
||
Su SY,
|
||
Shen CH,
|
||
Lai QL,
|
||
Zhang YX</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2025 Mar;12(2):e200350.
|
||
Epub 2024 Dec 18
|
||
doi: 10.1212/NXI.0000000000200350.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39693598" target="_blank">39693598</a><a href="/pmc/articles/PMC11658814" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/39223854">Neonatal Hyperekplexia: Is It Still a Diagnostic Challenge? Evidence From a Systematic Review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falsaperla R,
|
||
Sortino V,
|
||
Giacchi V,
|
||
Saporito MAN,
|
||
Marino S,
|
||
Tardino LG,
|
||
Marino L,
|
||
Gennaro A,
|
||
Ruggieri M,
|
||
Barberi C,
|
||
Polizzi A</span><br />
|
||
<span class="medgenPMjournal">J Child Neurol</span>
|
||
2024 Oct;39(11-12):415-424.
|
||
Epub 2024 Sep 2
|
||
doi: 10.1177/08830738241273425.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39223854" target="_blank">39223854</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35636282">Hereditary Hyperekplexia: A New Family and a Systematic Review of GLRA1 Gene-Related Phenotypes.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferraroli E,
|
||
Perulli M,
|
||
Veredice C,
|
||
Contaldo I,
|
||
Quintiliani M,
|
||
Ricci M,
|
||
Venezia I,
|
||
Citrigno L,
|
||
Qualtieri A,
|
||
Spadafora P,
|
||
Cavalcanti F,
|
||
Battaglia DI</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2022 Jul;132:45-49.
|
||
Epub 2022 May 17
|
||
doi: 10.1016/j.pediatrneurol.2022.05.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35636282" target="_blank">35636282</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32170042">Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Simard C,
|
||
Vogrig A,
|
||
Joubert B,
|
||
Muñiz-Castrillo S,
|
||
Picard G,
|
||
Rogemond V,
|
||
Ducray F,
|
||
Berzero G,
|
||
Psimaras D,
|
||
Antoine JC,
|
||
Desestret V,
|
||
Honnorat J</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2020 May;7(3)
|
||
Epub 2020 Mar 13
|
||
doi: 10.1212/NXI.0000000000000699.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32170042" target="_blank">32170042</a><a href="/pmc/articles/PMC7136048" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hyperekplexia%202%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 (4)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
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|
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|
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|
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|
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|
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<div class="supplemental col three_col last">
|
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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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>
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||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C3553291%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553291%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553291%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553291%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (22)</a></li>
|
||
<li><a href="/gtr/tests?term=C3553291%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (2)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C3553291%5bDISCUI%5d" target="_blank">See all (23)</a></total></li>
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<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>
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<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=614619" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hyperekplexia%202" target="_blank">ClinicalTrials.gov</a></li></ul></div>
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(hyperekplexia%202)%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Hyperekplexia%202%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<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>
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||
<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=138492" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=2743[geneid]" target="_blank">View GLRB variations in ClinVar</a></li><li><a href="/nuccore/263190707" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=614619" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/HYPEREKPLEXIA+2/8585" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/hyperekplexia_2" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hyperekplexia%202" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/15826/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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<a href="/pubmed/20301437" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
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|
||
<li>
|
||
<a href="/pubmed/clinical?term=Hyperekplexia%202" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
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<a href="/pubmed?term=Hyperekplexia%202%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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