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<meta name="keywords" content="C0522214, abnormal vep, abnormal vision evoked potentials, abnormal visual evoked potential, abnormal visual evoked potentials, abnormal visual evoked responses, abnormal visual-evoked potentials, abnormality of visual evoked potentials, finding, vep abnormalities, 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="An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=105509
|
||
ConceptID=C0522214
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Abnormality of visual evoked potentials</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105509</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.">C0522214</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>Abnormal VEP; Abnormal visual evoked potential; Abnormal visual evoked potentials; Abnormal visual-evoked potentials</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Abnormal visual evoked potential (102968003)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0000649">HP:0000649</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>
|
||
<div class="portlet_content ln">An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
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<div class="portlet mgSection" id="ID_118">
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<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>
|
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<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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0522214[DISCUI]&test_type=Clinical" ref="ncbi_uid=105509">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=105509" ref="ncbi_uid=105509">V</a></span></span><span class="TLline">Abnormality of visual evoked potentials</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/474891" ref="tree=MeSH" title="MedGen record for Congenital Systemic Disorder">Congenital Systemic Disorder</a></span><ul><li><span class="TLline"><a href="/medgen/105425" ref="tree=MeSH" title="MedGen record for Abnormality of the nervous system">Abnormality of the nervous system</a></span><ul><li><span class="TLline"><a href="/medgen/868417" ref="tree=MeSH" title="MedGen record for Abnormal nervous system physiology">Abnormal nervous system physiology</a></span><ul><li><span class="TLline"><a href="/medgen/867410" ref="tree=MeSH" title="MedGen record for Abnormal nervous system electrophysiology">Abnormal nervous system electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/868205" ref="tree=MeSH" title="MedGen record for Abnormality of central nervous system electrophysiology">Abnormality of central nervous system electrophysiology</a></span><ul><li><span class="TLline"><a href="/medgen/1863529" ref="tree=MeSH" title="MedGen record for Abnormal brain-evoked potentials">Abnormal brain-evoked potentials</a></span><ul><li><span class="matched_ds">Abnormality of visual evoked potentials</span><ul><li><span class="TLline"><a href="/medgen/870329" ref="tree=MeSH" title="MedGen record for Abnormal flash visual evoked potentials">Abnormal flash visual evoked potentials</a></span><ul><li><span class="TLline"><a href="/medgen/892868" ref="tree=MeSH" title="MedGen record for Abnormal amplitude of flash visual evoked potentials">Abnormal amplitude of flash visual evoked potentials</a></span><ul><li><span class="TLline"><a href="/medgen/867200" ref="tree=MeSH" title="MedGen record for Enlarged flash visual evoked potentials">Enlarged flash visual evoked potentials</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892990" ref="tree=MeSH" title="MedGen record for Abnormal timing of flash visual evoked potentials">Abnormal timing of flash visual evoked potentials</a></span></li><li><span class="TLline"><a href="/medgen/893006" ref="tree=MeSH" title="MedGen record for Asymmetrical distribution of flash visual evoked potentials">Asymmetrical distribution of flash visual evoked potentials</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/892912" ref="tree=MeSH" title="MedGen record for Abnormality of pattern visual evoked potentials">Abnormality of pattern visual evoked potentials</a></span><ul><li><span class="TLline"><a href="/medgen/892765" ref="tree=MeSH" title="MedGen record for Abnormality of pattern onset/offset visual evoked potentials">Abnormality of pattern onset/offset visual evoked potentials</a></span><ul><li><span class="TLline"><a href="/medgen/892838" ref="tree=MeSH" title="MedGen record for Abnormal amplitude of pattern onset/offset visual evoked potentials">Abnormal amplitude of pattern onset/offset visual evoked potentials</a></span></li><li><span class="TLline"><a href="/medgen/893103" ref="tree=MeSH" title="MedGen record for Abnormal timing of pattern onset/offset visual evoked potentials">Abnormal timing of pattern onset/offset visual evoked potentials</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/867775" ref="tree=MeSH" title="MedGen record for Abnormality of pattern reversal visual evoked potentials">Abnormality of pattern reversal visual evoked potentials</a></span><ul><li><span class="TLline"><a href="/medgen/871342" ref="tree=MeSH" title="MedGen record for Abnormal amplitude of pattern reversal visual evoked potentials">Abnormal amplitude of pattern reversal visual evoked potentials</a></span></li><li><span class="TLline"><a href="/medgen/892711" ref="tree=MeSH" title="MedGen record for Abnormal timing of pattern reversal visual evoked potentials">Abnormal timing of pattern reversal visual evoked potentials</a></span></li><li><span class="TLline"><a href="/medgen/893094" ref="tree=MeSH" title="MedGen record for Asymmetrical distribution of pattern reversal visual evoked potentials">Asymmetrical distribution of pattern reversal visual evoked potentials</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/376697" ref="tree=MeSH" title="MedGen record for Undetectable visual evoked potentials">Undetectable visual evoked potentials</a></span></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
|
||
</div>
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<div class="portlet mgSection" id="ID_112">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Conditions_with_this_feature">Conditions with this feature</h1><a sid="112" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat">
|
||
<div class="divPopper rprt" id="rdis_60012"><div><strong>Progressive sclerosing poliodystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>60012</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.">C0205710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">POLG-related disorders comprise a continuum of overlapping phenotypes that were clinically defined before the molecular basis was known. POLG-related disorders can therefore be considered an overlapping spectrum of disease presenting from early childhood to late adulthood. The age of onset broadly correlates with the clinical phenotype. In individuals with early-onset disease (prior to age 12 years), liver involvement, feeding difficulties, seizures, hypotonia, and muscle weakness are the most common clinical features. This group has the worst prognosis. In the juvenile/adult-onset form (age 12-40 years), disease is typically characterized by peripheral neuropathy, ataxia, seizures, stroke-like episodes, and, in individuals with longer survival, progressive external ophthalmoplegia (PEO). This group generally has a better prognosis than the early-onset group. Late-onset disease (after age 40 years) is characterized by ptosis and PEO, with additional features such as peripheral neuropathy, ataxia, and muscle weakness. This group overall has the best prognosis.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/60012">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82852"><div><strong>Infantile neuroaxonal dystrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82852</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.">C0270724</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">PLA2G6-associated neurodegeneration (PLAN) comprises a continuum of three phenotypes with overlapping clinical and radiologic features: Infantile neuroaxonal dystrophy (INAD). Atypical neuroaxonal dystrophy (atypical NAD). PLA2G6-related dystonia-parkinsonism. INAD usually begins between ages six months and three years with psychomotor regression or delay, hypotonia, and progressive spastic tetraparesis. Many affected children never learn to walk or lose the ability shortly after attaining it. Strabismus, nystagmus, and optic atrophy are common. Disease progression is rapid, resulting in severe spasticity, progressive cognitive decline, and visual impairment. Many affected children do not survive beyond their first decade. Atypical NAD shows more phenotypic variability than INAD. In general, onset is in early childhood but can be as late as the end of the second decade. The presenting signs may be gait instability, ataxia, or speech delay and autistic features, which are sometimes the only evidence of disease for a year or more. Strabismus, nystagmus, and optic atrophy are common. Neuropsychiatric disturbances including impulsivity, poor attention span, hyperactivity, and emotional lability are also common. The course is fairly stable during early childhood and resembles static encephalopathy but is followed by neurologic deterioration between ages seven and 12 years. PLA2G6-related dystonia-parkinsonism has a variable age of onset, but most individuals present in early adulthood with gait disturbance or neuropsychiatric changes. Affected individuals consistently develop dystonia and parkinsonism (which may be accompanied by rapid cognitive decline) in their late teens to early twenties. Dystonia is most common in the hands and feet but may be more generalized. The most common features of parkinsonism in these individuals are bradykinesia, resting tremor, rigidity, and postural instability.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/82852">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_82889"><div><strong>Glucocorticoid deficiency with achalasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82889</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.">C0271742</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Triple A syndrome is an inherited condition characterized by three specific features: achalasia, Addison disease, and alacrima. Achalasia is a disorder that affects the ability to move food through the esophagus, the tube that carries food from the throat to the stomach. It can lead to severe feeding difficulties and low blood glucose (hypoglycemia). Addison disease, also known as primary adrenal insufficiency, is caused by abnormal function of the small hormone-producing glands on top of each kidney (adrenal glands). The main features of Addison disease include fatigue, loss of appetite, weight loss, low blood pressure, and darkening of the skin. The third major feature of triple A syndrome is a reduced or absent ability to secrete tears (alacrima). Most people with triple A syndrome have all three of these features, although some have only two.\n\nMany of the features of triple A syndrome are caused by dysfunction of the autonomic nervous system. This part of the nervous system controls involuntary body processes such as digestion, blood pressure, and body temperature. People with triple A syndrome often experience abnormal sweating, difficulty regulating blood pressure, unequal pupil size (anisocoria), and other signs and symptoms of autonomic nervous system dysfunction (dysautonomia).\n\nPeople with this condition may have other neurological abnormalities, such as developmental delay, intellectual disability, speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, movement problems, and nerve abnormalities in their extremities (peripheral neuropathy). Some develop optic atrophy, which is the degeneration (atrophy) of the nerves that carry information from the eyes to the brain. Many of the neurological symptoms of triple A syndrome worsen over time.\n\nPeople with triple A syndrome frequently develop a thickening of the outer layer of skin (hyperkeratosis) on the palms of their hands and the soles of their feet. Other skin abnormalities may also be present in people with this condition.\n\nAlacrima is usually the first noticeable sign of triple A syndrome, as it becomes apparent early in life that affected children produce little or no tears while crying. They develop Addison disease and achalasia during childhood or adolescence, and most of the neurologic features of triple A syndrome begin during adulthood. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/82889">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_140747"><div><strong>Hereditary motor and sensory neuropathy with optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140747</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.">C0393807</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MFN2 hereditary motor and sensory neuropathy (MFN2-HMSN) is a classic axonal peripheral sensorimotor neuropathy, inherited in either an autosomal dominant (AD) manner (~90%) or an autosomal recessive (AR) manner (~10%). MFN2-HMSN is characterized by more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Median onset is age 12 years in the AD form and age eight years in the AR form. The prevalence of optic atrophy is approximately 7% in the AD form and approximately 20% in the AR form.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/140747">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_155487"><div><strong>Cockayne syndrome type 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155487</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.">C0751038</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155487">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_155488"><div><strong>Cockayne syndrome type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>155488</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.">C0751039</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Cockayne syndrome (referred to as CS in this GeneReview) spans a continuous phenotypic spectrum that includes CS type I, the "classic" or "moderate" form; CS type II, a more severe form with symptoms present at birth (this form overlaps with cerebrooculofacioskeletal [COFS] syndrome); CS type III, a milder and later-onset form; and COFS syndrome, a fetal form of CS. CS type I is characterized by normal prenatal growth with the onset of growth and developmental abnormalities in the first two years. By the time the disease has become fully manifest, height, weight, and head circumference are far below the fifth percentile. Progressive impairment of vision, hearing, and central and peripheral nervous system function leads to severe disability; death typically occurs in the first or second decade. CS type II is characterized by growth failure at birth, with little or no postnatal neurologic development. Congenital cataracts or other structural anomalies of the eye may be present. Affected children have early postnatal contractures of the spine (kyphosis, scoliosis) and joints. Death usually occurs by age five years. CS type III is a phenotype in which major clinical features associated with CS only become apparent after age two years; growth and/or cognition exceeds the expectations for CS type I. COFS syndrome is characterized by very severe prenatal developmental anomalies (arthrogryposis and microphthalmia).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/155488">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_371304"><div><strong>Charcot-Marie-Tooth disease type 4D</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>371304</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.">C1832334</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Charcot-Marie-Tooth disease type 4D (CMT4D) is an autosomal recessive disorder of the peripheral nervous system characterized by early-onset distal muscle weakness and atrophy, foot deformities, and sensory loss affecting all modalities. Affected individuals develop deafness by the third decade of life (summary by Okamoto et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of autosomal recessive Charcot-Marie-Tooth disease, see CMT4A (214400).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/371304">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_383962"><div><strong>Friedreich ataxia 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383962</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:">C1856689</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Typical Friedreich ataxia (FRDA) is characterized by progressive ataxia with onset from early childhood to early adulthood with mean age at onset from 10 to 15 years (range: age two years to the eighth decade). Ataxia, manifesting initially as poor balance when walking, is typically followed by upper-limb ataxia, dysarthria, dysphagia, peripheral motor and sensory neuropathy, spasticity, autonomic disturbance, and often abnormal eye movements and optic atrophy. Hypertrophic cardiomyopathy is present in about two thirds of individuals; occasionally it is diagnosed prior to the onset of ataxia. Diabetes mellitus and impaired glucose tolerance can also occur. Among individuals with FRDA, about 75% have "typical Friedreich ataxia" and about 25% of individuals with biallelic FXN full-penetrance GAA repeat expansions have "atypical Friedreich ataxia" that includes late-onset FRDA (LOFA) (i.e., onset after age 25 years), very late-onset FRDA (VLOFA) (i.e., onset after age 40 years), and FRDA with retained reflexes (FARR).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/383962">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_482486"><div><strong>Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>482486</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.">C3280856</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">ISQMR is a severe autosomal recessive disorder characterized by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures (summary by Aldahmesh et al., 2011).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/482486">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_815995"><div><strong>Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>815995</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.">C3809665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paraplegia-79B (SPG79B) is an autosomal recessive progressive neurologic disorder characterized by onset of spastic paraplegia and optic atrophy in the first decade of life. Additional features are variable, but may include peripheral neuropathy, cerebellar ataxia, and cognitive impairment (summary by Rydning et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/815995">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_905041"><div><strong>Cerebellar atrophy, visual impairment, and psychomotor retardation;</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>905041</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.">C4225172</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/905041">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_897984"><div><strong>Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>897984</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.">C4225351</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">White-Sutton syndrome is a neurodevelopmental disorder characterized by a wide spectrum of cognitive dysfunction, developmental delays (particularly in speech and language acquisition), hypotonia, autism spectrum disorder, and other behavioral problems. Additional features commonly reported include seizures, refractive errors and strabismus, hearing loss, sleep disturbance (particularly sleep apnea), feeding and gastrointestinal problems, mild genital abnormalities in males, and urinary tract involvement in both males and females.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/897984">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1385580"><div><strong>Neurodevelopmental disorder with midbrain and hindbrain malformations</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1385580</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.">C4479613</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Neurodevelopmental disorder with midbrain and hindbrain malformations (NEDMHM) is an autosomal recessive disorder comprising impaired intellectual development, speech delay, mild microcephaly, and midbrain-hindbrain malformation (Ravindran et al., 2017).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1385580">Condition Record</a></div></div>
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||
<div class="divPopper rprt" id="rdis_1634330"><div><strong>Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1634330</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.">C4551768</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1634330">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1801135"><div><strong>Developmental and epileptic encephalopathy, 3</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1801135</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.">C5574665</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-3 (DEE3) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first weeks to months of life. The prognosis is poor, and affected children either may die within 1 to 2 years after birth or survive in a persistent vegetative state. The EEG pattern often shows a suppression-burst pattern with high-voltage bursts of slow waves mixed with multifocal spikes alternating with isoelectric suppression phases; these features are reminiscent of a clinical diagnosis of Ohtahara syndrome. Some patients may have hypsarrhythmia on EEG, consistent with a clinical diagnosis of West syndrome (summary by Molinari et al., 2005, Molinari et al., 2009). For a discussion of genetic heterogeneity of DEE, see 308350.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/1801135">Condition Record</a></div></div>
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<div class="divPopper rprt" id="rdis_1858870"><div><strong>Developmental and epileptic encephalopathy 115</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1858870</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.">C5935604</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Developmental and epileptic encephalopathy-115 (DEE115) is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypo-/aplasia of the corpus callosum, neurodevelopmental arrest, and early death (Brugger et al., 2024). For general phenotypic information and a discussion of genetic heterogeneity of DEE, see 308350.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1858870">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1859522"><div><strong>Neurodevelopmental disorder plus optic atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1859522</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.">C5935605</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Neurodevelopmental disorder plus optic atrophy (NEDOA) is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia (Brugger et al., 2024).</div>
|
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<div class="spaceAbove nowrap">See: <a href="/medgen/1859522">Condition Record</a></div></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_905041" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy, visual impairment, and psychomotor retardation;</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1634330" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_371304" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Charcot-Marie-Tooth disease type 4D</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_155487" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cockayne syndrome type 2</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (17)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_482486" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1858870" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy 115</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1801135" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Developmental and epileptic encephalopathy, 3</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_815995" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_383962" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Friedreich ataxia 1</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82889" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Glucocorticoid deficiency with achalasia</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_140747" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hereditary motor and sensory neuropathy with optic atrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_82852" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Infantile neuroaxonal dystrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_897984" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1859522" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder plus optic atrophy</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1385580" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neurodevelopmental disorder with midbrain and hindbrain malformations</a></div>
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<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_60012" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Progressive sclerosing poliodystrophy</a></div></span></div></div>
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<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/38538701">Clinical and paraclinical characteristics of optic neuritis in the context of the McDonald criteria 2017.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jendretzky KF,
|
||
Bajor A,
|
||
Lezius LM,
|
||
Hümmert MW,
|
||
Konen FF,
|
||
Grosse GM,
|
||
Schwenkenbecher P,
|
||
Sühs KW,
|
||
Trebst C,
|
||
Framme C,
|
||
Wattjes MP,
|
||
Meuth SG,
|
||
Gingele S,
|
||
Skripuletz T</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Mar 27;14(1):7293.
|
||
doi: 10.1038/s41598-024-57199-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38538701" target="_blank">38538701</a><a href="/pmc/articles/PMC10973511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36652041">The role of visual electrodiagnostics in management of children with neurofibromatosis type 1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tekavčič Pompe M,
|
||
Pečarič Meglič N,
|
||
Šuštar Habjan M</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2023 Apr;146(2):121-136.
|
||
Epub 2023 Jan 18
|
||
doi: 10.1007/s10633-023-09920-3.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36652041" target="_blank">36652041</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29081426">Bilateral vestibulopathy: Diagnostic criteria Consensus document of the Classification Committee of the Bárány Society.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Strupp M,
|
||
Kim JS,
|
||
Murofushi T,
|
||
Straumann D,
|
||
Jen JC,
|
||
Rosengren SM,
|
||
Della Santina CC,
|
||
Kingma H</span><br />
|
||
<span class="medgenPMjournal">J Vestib Res</span>
|
||
2017;27(4):177-189.
|
||
doi: 10.3233/VES-170619.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29081426" target="_blank">29081426</a><a href="/pmc/articles/PMC9249284" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(abnormality%20of%20visual%20evoked%20potentials)%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 (52)</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/36484227">Defects and asymmetries in the visual pathway of non-human primates with natural strabismus and amblyopia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Liu F,
|
||
Wang ZH,
|
||
Huang W,
|
||
Xu Y,
|
||
Sang X,
|
||
Liu RF,
|
||
Li ZY,
|
||
Bi YL,
|
||
Tang L,
|
||
Peng JY,
|
||
Wei JR,
|
||
Miao ZC,
|
||
Yan JH,
|
||
Liu S</span><br />
|
||
<span class="medgenPMjournal">Zool Res</span>
|
||
2023 Jan 18;44(1):153-168.
|
||
doi: 10.24272/j.issn.2095-8137.2022.254.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36484227" target="_blank">36484227</a><a href="/pmc/articles/PMC9841183" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33381858">The contribution of multifocal visual evoked potentials in patients with optic neuritis and multiple sclerosis: a review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zafeiropoulos P,
|
||
Katsanos A,
|
||
Kitsos G,
|
||
Stefaniotou M,
|
||
Asproudis I</span><br />
|
||
<span class="medgenPMjournal">Doc Ophthalmol</span>
|
||
2021 Jun;142(3):283-292.
|
||
Epub 2020 Dec 31
|
||
doi: 10.1007/s10633-020-09799-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33381858" target="_blank">33381858</a><a href="/pmc/articles/PMC8116218" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28531809">Multifocal visual evoked potentials in optic neuritis and multiple sclerosis: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pihl-Jensen G,
|
||
Schmidt MF,
|
||
Frederiksen JL</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2017 Jul;128(7):1234-1245.
|
||
Epub 2017 Apr 11
|
||
doi: 10.1016/j.clinph.2017.03.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28531809" target="_blank">28531809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28266186">Neurological findings spectrum in Celiac disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Aksoy E,
|
||
Tıraş-Teber S,
|
||
Kansu A,
|
||
Deda G,
|
||
Kartal A</span><br />
|
||
<span class="medgenPMjournal">Turk J Pediatr</span>
|
||
2016;58(3):233-240.
|
||
doi: 10.24953/turkjped.2016.03.001.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28266186" target="_blank">28266186</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8358960">Visual-evoked potentials in neonates following asphyxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whyte HE</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
1993 Jun;20(2):451-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8358960" target="_blank">8358960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20visual%20evoked%20potentials%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 (1232)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35468101">Optical Coherence Tomography and Visual Evoked Potential Testing for Noninvasive Intracranial Pressure Monitoring in Craniosynostosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Burns HR,
|
||
Dibbs RP,
|
||
Ferry AM,
|
||
Bauer DF,
|
||
Maricevich RS</span><br />
|
||
<span class="medgenPMjournal">Plast Reconstr Surg</span>
|
||
2022 Jun 1;149(6):1268e-1269e.
|
||
Epub 2022 Apr 25
|
||
doi: 10.1097/PRS.0000000000009110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35468101" target="_blank">35468101</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33832688">Electrophysiology in neuro-ophthalmology.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurkute N,
|
||
Robson AG</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2021;178:79-96.
|
||
doi: 10.1016/B978-0-12-821377-3.00019-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33832688" target="_blank">33832688</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31277872">Visually evoked potentials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Creel DJ</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;160:501-522.
|
||
doi: 10.1016/B978-0-444-64032-1.00034-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31277872" target="_blank">31277872</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22925838">Fixation-off sensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brigo F,
|
||
Rossini F,
|
||
Stefani A,
|
||
Nardone R,
|
||
Tezzon F,
|
||
Fiaschi A,
|
||
Manganotti P,
|
||
Bongiovanni LG</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2013 Feb;124(2):221-7.
|
||
Epub 2012 Aug 24
|
||
doi: 10.1016/j.clinph.2012.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22925838" target="_blank">22925838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/19203077">Visual evoked potentials.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nehamkin S,
|
||
Windom M,
|
||
Syed TU</span><br />
|
||
<span class="medgenPMjournal">Am J Electroneurodiagnostic Technol</span>
|
||
2008 Dec;48(4):233-48.
|
||
<span class="bold">PMID: </span><a href="/pubmed/19203077" target="_blank">19203077</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20visual%20evoked%20potentials%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 (1508)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39501548">Safety of and chorioretinal circulation during repeated low-level red-light therapy for myopic children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jiang Z,
|
||
Chen S,
|
||
Wang R,
|
||
Ma J</span><br />
|
||
<span class="medgenPMjournal">Clin Exp Ophthalmol</span>
|
||
2025 Mar;53(2):119-132.
|
||
Epub 2024 Nov 5
|
||
doi: 10.1111/ceo.14462.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39501548" target="_blank">39501548</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36708225">Pattern visual evoked potentials show an inferior-superior topographic shift through maturation in childhood.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marmoy OR,
|
||
Horvat-Gitsels LA,
|
||
Cortina-Borja M,
|
||
Thompson DA</span><br />
|
||
<span class="medgenPMjournal">J Physiol</span>
|
||
2023 May;601(10):1869-1880.
|
||
Epub 2023 Feb 8
|
||
doi: 10.1113/JP283408.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36708225" target="_blank">36708225</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35421194">Retinal biomarkers of Cerebral Small Vessel Disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biffi E,
|
||
Turple Z,
|
||
Chung J,
|
||
Biffi A</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(4):e0266974.
|
||
Epub 2022 Apr 14
|
||
doi: 10.1371/journal.pone.0266974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35421194" target="_blank">35421194</a><a href="/pmc/articles/PMC9009626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32482781">Acute disseminated encephalomyelitis after SARS-CoV-2 infection.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Novi G,
|
||
Rossi T,
|
||
Pedemonte E,
|
||
Saitta L,
|
||
Rolla C,
|
||
Roccatagliata L,
|
||
Inglese M,
|
||
Farinini D</span><br />
|
||
<span class="medgenPMjournal">Neurol Neuroimmunol Neuroinflamm</span>
|
||
2020 Sep;7(5)
|
||
Epub 2020 Jun 1
|
||
doi: 10.1212/NXI.0000000000000797.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32482781" target="_blank">32482781</a><a href="/pmc/articles/PMC7286650" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11522950">Disordered visual processing and oscillatory brain activity in autism and Williams syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grice SJ,
|
||
Spratling MW,
|
||
Karmiloff-Smith A,
|
||
Halit H,
|
||
Csibra G,
|
||
de Haan M,
|
||
Johnson MH</span><br />
|
||
<span class="medgenPMjournal">Neuroreport</span>
|
||
2001 Aug 28;12(12):2697-700.
|
||
doi: 10.1097/00001756-200108280-00021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11522950" target="_blank">11522950</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20visual%20evoked%20potentials%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 (429)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38538701">Clinical and paraclinical characteristics of optic neuritis in the context of the McDonald criteria 2017.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jendretzky KF,
|
||
Bajor A,
|
||
Lezius LM,
|
||
Hümmert MW,
|
||
Konen FF,
|
||
Grosse GM,
|
||
Schwenkenbecher P,
|
||
Sühs KW,
|
||
Trebst C,
|
||
Framme C,
|
||
Wattjes MP,
|
||
Meuth SG,
|
||
Gingele S,
|
||
Skripuletz T</span><br />
|
||
<span class="medgenPMjournal">Sci Rep</span>
|
||
2024 Mar 27;14(1):7293.
|
||
doi: 10.1038/s41598-024-57199-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38538701" target="_blank">38538701</a><a href="/pmc/articles/PMC10973511" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38138263">Chronic Inflammatory Demyelinating Polyneuropathy and Evaluation of the Visual Evoked Potentials: A Review of the Literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tsoumanis P,
|
||
Kitsouli A,
|
||
Stefanou C,
|
||
Papathanakos G,
|
||
Stefanou S,
|
||
Tepelenis K,
|
||
Zikidis H,
|
||
Tsoumani A,
|
||
Zafeiropoulos P,
|
||
Kitsoulis P,
|
||
Kanavaros P</span><br />
|
||
<span class="medgenPMjournal">Medicina (Kaunas)</span>
|
||
2023 Dec 13;59(12)
|
||
doi: 10.3390/medicina59122160.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38138263" target="_blank">38138263</a><a href="/pmc/articles/PMC10744621" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37108524">Visual Evoked Potentials for the Detection of Diabetic Retinal Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miura G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Apr 17;24(8)
|
||
doi: 10.3390/ijms24087361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37108524" target="_blank">37108524</a><a href="/pmc/articles/PMC10138821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28531809">Multifocal visual evoked potentials in optic neuritis and multiple sclerosis: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pihl-Jensen G,
|
||
Schmidt MF,
|
||
Frederiksen JL</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2017 Jul;128(7):1234-1245.
|
||
Epub 2017 Apr 11
|
||
doi: 10.1016/j.clinph.2017.03.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28531809" target="_blank">28531809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22776096">Dominant optic atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lenaers G,
|
||
Hamel C,
|
||
Delettre C,
|
||
Amati-Bonneau P,
|
||
Procaccio V,
|
||
Bonneau D,
|
||
Reynier P,
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Milea D</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2012 Jul 9;7:46.
|
||
doi: 10.1186/1750-1172-7-46.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22776096" target="_blank">22776096</a><a href="/pmc/articles/PMC3526509" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20visual%20evoked%20potentials%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 (591)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37108524">Visual Evoked Potentials for the Detection of Diabetic Retinal Neuropathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Miura G</span><br />
|
||
<span class="medgenPMjournal">Int J Mol Sci</span>
|
||
2023 Apr 17;24(8)
|
||
doi: 10.3390/ijms24087361.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37108524" target="_blank">37108524</a><a href="/pmc/articles/PMC10138821" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28531809">Multifocal visual evoked potentials in optic neuritis and multiple sclerosis: A review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pihl-Jensen G,
|
||
Schmidt MF,
|
||
Frederiksen JL</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2017 Jul;128(7):1234-1245.
|
||
Epub 2017 Apr 11
|
||
doi: 10.1016/j.clinph.2017.03.047.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28531809" target="_blank">28531809</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28181909">Visual evoked potentials in diagnostics of optic neuropathy associated with renal failure.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jurys M,
|
||
Sirek S,
|
||
Kolonko A,
|
||
Pojda-Wilczek D</span><br />
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<span class="medgenPMjournal">Postepy Hig Med Dosw (Online)</span>
|
||
2017 Jan 22;71(0):32-39.
|
||
doi: 10.5604/17322693.1229345.
|
||
<span class="bold">PMID: </span><a href="/pubmed/28181909" target="_blank">28181909</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/22925838">Fixation-off sensitivity.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brigo F,
|
||
Rossini F,
|
||
Stefani A,
|
||
Nardone R,
|
||
Tezzon F,
|
||
Fiaschi A,
|
||
Manganotti P,
|
||
Bongiovanni LG</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2013 Feb;124(2):221-7.
|
||
Epub 2012 Aug 24
|
||
doi: 10.1016/j.clinph.2012.07.017.
|
||
<span class="bold">PMID: </span><a href="/pubmed/22925838" target="_blank">22925838</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8358960">Visual-evoked potentials in neonates following asphyxia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whyte HE</span><br />
|
||
<span class="medgenPMjournal">Clin Perinatol</span>
|
||
1993 Jun;20(2):451-61.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8358960" target="_blank">8358960</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20visual%20evoked%20potentials%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 (844)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<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>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/38776317">Neurophysiological, balance and motion evidence in adolescent idiopathic scoliosis: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Paramento M,
|
||
Passarotto E,
|
||
Maccarone MC,
|
||
Agostini M,
|
||
Contessa P,
|
||
Rubega M,
|
||
Formaggio E,
|
||
Masiero S</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2024;19(5):e0303086.
|
||
Epub 2024 May 22
|
||
doi: 10.1371/journal.pone.0303086.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38776317" target="_blank">38776317</a><a href="/pmc/articles/PMC11111046" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/38739367">Systematic review and meta-analysis of the visual mismatch negativity in schizophrenia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mazer P,
|
||
Carneiro F,
|
||
Domingo J,
|
||
Pasion R,
|
||
Silveira C,
|
||
Ferreira-Santos F</span><br />
|
||
<span class="medgenPMjournal">Eur J Neurosci</span>
|
||
2024 Jun;59(11):2863-2874.
|
||
Epub 2024 May 13
|
||
doi: 10.1111/ejn.16355.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38739367" target="_blank">38739367</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35421194">Retinal biomarkers of Cerebral Small Vessel Disease: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Biffi E,
|
||
Turple Z,
|
||
Chung J,
|
||
Biffi A</span><br />
|
||
<span class="medgenPMjournal">PLoS One</span>
|
||
2022;17(4):e0266974.
|
||
Epub 2022 Apr 14
|
||
doi: 10.1371/journal.pone.0266974.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35421194" target="_blank">35421194</a><a href="/pmc/articles/PMC9009626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31812082">Sensory evoked potentials in patients with Rett syndrome through the lens of animal studies: Systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sysoeva OV,
|
||
Smirnov K,
|
||
Stroganova TA</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2020 Jan;131(1):213-224.
|
||
Epub 2019 Nov 21
|
||
doi: 10.1016/j.clinph.2019.11.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31812082" target="_blank">31812082</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29981961">Systematic review of cognitive event related potentials in euthymic bipolar disorder.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Morsel AM,
|
||
Morrens M,
|
||
Dhar M,
|
||
Sabbe B</span><br />
|
||
<span class="medgenPMjournal">Clin Neurophysiol</span>
|
||
2018 Sep;129(9):1854-1865.
|
||
Epub 2018 Jun 27
|
||
doi: 10.1016/j.clinph.2018.05.025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29981961" target="_blank">29981961</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Abnormality%20of%20visual%20evoked%20potentials%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 (12)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0522214%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (9)</a></li>
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<li><a href="/gtr/tests?term=C0522214%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (9)</a></li>
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<a href="https://www.nih.gov/institutes-nih/nih-office-director/office-communications-public-liaison/freedom-information-act-office" class="text-white">FOIA</a><br />
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