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<!--
|
||
UID=140910
|
||
ConceptID=C0431391
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Hemimegalencephaly</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>140910</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.">C0431391</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome; Finding</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Unilateral Megalencephaly</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Hemimegalencephaly (253170008)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_988794"><div><strong>Not genetically inherited</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>988794</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN307044</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">clinical entity without genetic inheritance.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/988794">This record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_988794" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Not genetically inherited</a><span> (Orphanet)</span></div></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:0007206">HP:0007206</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0020492" target="_blank">MONDO:0020492</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99802">ORPHA99802</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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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">Enlargement of all or parts of one cerebral hemisphere. [from <a title="Human Phenotype Ontology" href="http://www.human-phenotype-ontology.org" class="defSource" target="_blank">HPO</a>]</div>
|
||
</div>
|
||
|
||
<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>
|
||
<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=C0431391[DISCUI]&test_type=Clinical" ref="ncbi_uid=140910">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=140910" ref="ncbi_uid=140910">V</a></span></span><span class="TLline">Hemimegalencephaly</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/82742" ref="tree=MeSH" title="MedGen record for Brain malformation">Brain malformation</a></span><ul><li><span class="matched_ds">Hemimegalencephaly</span></li></ul></li></ul></div></div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_112">
|
||
<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_167083"><div><strong>Curry-Jones syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>167083</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.">C0795915</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/167083">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_331813"><div><strong>Cerebelloparenchymal Disorder VI</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>331813</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.">C1834711</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/331813">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_339510"><div><strong>Isolated focal cortical dysplasia type II</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>339510</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.">C1846385</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Focal cortical dysplasia type II (FCORD2), or focal cortical dysplasia of Taylor (FCDT), is a cerebral developmental malformation that results in a clinical phenotype of intractable epilepsy, usually requiring surgery. FCORD2 has been classified histologically into 2 subtypes: a type without balloon cells, known as type IIA, and a type with balloon cells, known as type IIB (Palmini et al., 2004). Affected individuals have refractory seizures, usually with onset in early childhood, and may have persistent intellectual disability. Most patients require neurosurgical resection of affected brain tissue to ameliorate seizure frequency and severity (summary by Moller et al., 2016).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/339510">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_344288"><div><strong>Tuberous sclerosis 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>344288</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.">C1854465</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/344288">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_348170"><div><strong>Tuberous sclerosis 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>348170</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.">C1860707</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Tuberous sclerosis complex (TSC) involves abnormalities of the skin (hypomelanotic macules, confetti skin lesions, facial angiofibromas, shagreen patches, fibrous cephalic plaques, ungual fibromas); brain (subependymal nodules, cortical tubers, and subependymal giant cell astrocytomas [SEGAs], seizures, TSC-associated neuropsychiatric disorder [TAND]); kidneys (benign renal angiomyolipomas, epithelial cysts, oncocytoma, renal cell carcinoma); heart (rhabdomyomas, arrhythmias); and lungs (lymphangioleiomyomatosis [LAM], multifocal micronodular pneumonocyte hyperplasia). Central nervous system-related problems (including TAND) are the leading cause of morbidity, whereas kidney disease is the leading cause of mortality.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/348170">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_863175"><div><strong>Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>863175</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.">C4014738</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">MPPH (megalencephaly-postaxial polydactyly-polymicrogyria-hydrocephalus) syndrome is a developmental brain disorder characterized by megalencephaly (brain overgrowth) with the cortical malformation bilateral perisylvian polymicrogyria (BPP). At birth the occipital frontal circumference (OFC) ranges from normal to 6 standard deviations (SD) above the mean for age, sex, and gestational age; in older individuals the range is from 3 to 10 SD above the mean. A variable degree of ventriculomegaly is seen in almost all children with MPPH syndrome; nearly 50% of individuals have frank hydrocephalus. Neurologic problems associated with BPP include oromotor dysfunction (100%), epilepsy (50%), and mild-to-severe intellectual disability (100%). Postaxial hexadactyly occurs in 50% of individuals with MPPH syndrome.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/863175">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_899689"><div><strong>Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>899689</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.">C4225259</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Smith-Kingsmore syndrome (SKS) is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip (Smith et al., 2013; Baynam et al., 2015).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/899689">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1641798"><div><strong>Epilepsy, familial focal, with variable foci 1</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1641798</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.">C4551983</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1641798">Condition Record</a></div></div>
|
||
<div class="divPopper rprt" id="rdis_1646345"><div><strong>Linear nevus sebaceous syndrome</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1646345</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.">C4552097</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1646345">Condition Record</a></div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_331813" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebelloparenchymal Disorder VI</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_167083" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Curry-Jones syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1641798" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epilepsy, familial focal, with variable foci 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_339510" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Isolated focal cortical dysplasia type II</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_1646345" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Linear nevus sebaceous syndrome</a></div><div class="jig-moreless" data-jigconfig="class: 'moveDown', moreText: 'See full list (9)', lessText: 'Show less', nodeBefore: 0"><span id="clinMore">
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_899689" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_863175" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_344288" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 1</a></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#rdis_348170" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Tuberous sclerosis 2</a></div></span></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/38378686">Clinical characteristics and surgical management of facial infiltrating lipomatosis: a single center experience.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen H,
|
||
Sun B,
|
||
Xia W,
|
||
Qiu Y,
|
||
Gao W,
|
||
Hua C,
|
||
Lin X</span><br />
|
||
<span class="medgenPMjournal">Head Face Med</span>
|
||
2024 Feb 20;20(1):13.
|
||
doi: 10.1186/s13005-024-00412-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38378686" target="_blank">38378686</a><a href="/pmc/articles/PMC10877823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31568608">Prenatal diagnosis of hemimegalencephaly revealing tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bruet S,
|
||
Francannet C,
|
||
Marguet F,
|
||
Biard M,
|
||
Sarret C,
|
||
Laurichesse Delmas H</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Obstet Gynecol</span>
|
||
2020 May;55(5):688-689.
|
||
doi: 10.1002/uog.21874.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31568608" target="_blank">31568608</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/8048711">Surgical vs. medical treatment of seizures in hemimegalencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Bonioli E,
|
||
Palmieri A,
|
||
Bellini C</span><br />
|
||
<span class="medgenPMjournal">Brain Dev</span>
|
||
1994 Mar-Apr;16(2):169.
|
||
doi: 10.1016/0387-7604(94)90060-4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/8048711" target="_blank">8048711</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22hemimegalencephaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (8)</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/34620459">Epilepsy Surgery: Special Circumstances.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marashly A,
|
||
Karia S,
|
||
Zonjy B</span><br />
|
||
<span class="medgenPMjournal">Semin Pediatr Neurol</span>
|
||
2021 Oct;39:100921.
|
||
Epub 2021 Sep 3
|
||
doi: 10.1016/j.spen.2021.100921.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34620459" target="_blank">34620459</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31444548">Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldassari S,
|
||
Ribierre T,
|
||
Marsan E,
|
||
Adle-Biassette H,
|
||
Ferrand-Sorbets S,
|
||
Bulteau C,
|
||
Dorison N,
|
||
Fohlen M,
|
||
Polivka M,
|
||
Weckhuysen S,
|
||
Dorfmüller G,
|
||
Chipaux M,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2019 Dec;138(6):885-900.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1007/s00401-019-02061-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31444548" target="_blank">31444548</a><a href="/pmc/articles/PMC6851393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29359340">Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Marsan E,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Neuropathol Appl Neurobiol</span>
|
||
2018 Feb;44(1):6-17.
|
||
doi: 10.1111/nan.12463.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29359340" target="_blank">29359340</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14617366">Assessment of fetal intracranial pathologies first demonstrated late in pregnancy: cell proliferation disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malinger G,
|
||
Lev D,
|
||
Lerman-Sagie T</span><br />
|
||
<span class="medgenPMjournal">Reprod Biol Endocrinol</span>
|
||
2003 Nov 14;1:110.
|
||
doi: 10.1186/1477-7827-1-110.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14617366" target="_blank">14617366</a><a href="/pmc/articles/PMC293423" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2127080">Hemimegalencephaly and neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cusmai R,
|
||
Curatolo P,
|
||
Mangano S,
|
||
Cheminal R,
|
||
Echenne B</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
1990 Nov;21(4):179-82.
|
||
doi: 10.1055/s-2008-1071490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2127080" target="_blank">2127080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemimegalencephaly%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 (144)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35022853">Hemispherectomy for hemimegalencephaly in a 6.5-week-old infant with tuberous sclerosis complex.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Serletis D,
|
||
MacDonald C,
|
||
Xu Q,
|
||
Kazina CJ,
|
||
Dakshinamurti S,
|
||
Marin S,
|
||
Del Bigio MR</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2022 Jul;38(7):1415-1419.
|
||
Epub 2022 Jan 13
|
||
doi: 10.1007/s00381-021-05431-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35022853" target="_blank">35022853</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31444548">Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldassari S,
|
||
Ribierre T,
|
||
Marsan E,
|
||
Adle-Biassette H,
|
||
Ferrand-Sorbets S,
|
||
Bulteau C,
|
||
Dorison N,
|
||
Fohlen M,
|
||
Polivka M,
|
||
Weckhuysen S,
|
||
Dorfmüller G,
|
||
Chipaux M,
|
||
Baulac S</span><br />
|
||
<span class="medgenPMjournal">Acta Neuropathol</span>
|
||
2019 Dec;138(6):885-900.
|
||
Epub 2019 Aug 23
|
||
doi: 10.1007/s00401-019-02061-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31444548" target="_blank">31444548</a><a href="/pmc/articles/PMC6851393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24589886">Hemimegalencephaly without epilepsy: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James G,
|
||
Shanmuganathan M,
|
||
Harkness W</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2014 Sep;30(9):1617-9.
|
||
Epub 2014 Mar 4
|
||
doi: 10.1007/s00381-014-2392-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24589886" target="_blank">24589886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21606817">Hemimegalencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Reis J 3rd,
|
||
Gill G,
|
||
Voci S,
|
||
Almast J</span><br />
|
||
<span class="medgenPMjournal">Ultrasound Q</span>
|
||
2011 Jun;27(2):135-7.
|
||
doi: 10.1097/RUQ.0b013e31821c5dc7.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21606817" target="_blank">21606817</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2127080">Hemimegalencephaly and neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cusmai R,
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Curatolo P,
|
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Mangano S,
|
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Cheminal R,
|
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Echenne B</span><br />
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|
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<span class="bold">PMID: </span><a href="/pubmed/2127080" target="_blank">2127080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemimegalencephaly%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 (206)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/35226636">Efficacy of Ketamine Use in Refractory Status Epilepticus Associated With Hemimegalencephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Brisca G,
|
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Pirlo D,
|
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Prato G,
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Tortora D,
|
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Siri L,
|
||
Nobili L,
|
||
Tardini G,
|
||
Consales A,
|
||
Moscatelli A,
|
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Buratti S</span><br />
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<span class="medgenPMjournal">Pediatr Emerg Care</span>
|
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2022 Mar 1;38(3):e1090-e1091.
|
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doi: 10.1097/PEC.0000000000002654.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35226636" target="_blank">35226636</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34608615">Precision Therapy for Epilepsy Related to Brain Malformations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">D'Gama AM,
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Poduri A</span><br />
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<span class="medgenPMjournal">Neurotherapeutics</span>
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2021 Jul;18(3):1548-1563.
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Epub 2021 Oct 4
|
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doi: 10.1007/s13311-021-01122-6.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34608615" target="_blank">34608615</a><a href="/pmc/articles/PMC8608994" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33387903">Hemimegalencephaly and tuberous sclerosis complex: A rare yet challenging association.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sidira C,
|
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Vargiami E,
|
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Dragoumi P,
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Zafeiriou DI</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2021 Jan;30:58-65.
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Epub 2020 Dec 23
|
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doi: 10.1016/j.ejpn.2020.12.007.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33387903" target="_blank">33387903</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31451480">An infant with epilepsy: don't forget the importance of skin examination.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Madaan P,
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Rao Pala N,
|
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Saini L</span><br />
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<span class="medgenPMjournal">BMJ Case Rep</span>
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2019 Aug 26;12(8)
|
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<span class="bold">PMID: </span><a href="/pubmed/31451480" target="_blank">31451480</a><a href="/pmc/articles/PMC6720790" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/28799142">What to do in failed hemispherotomy? Our clinical series and review of the literature.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Bartoli A,
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El Hassani Y,
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Jenny B,
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Momjian S,
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Korff CM,
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Seeck M,
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Vulliemoz S,
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Schaller K</span><br />
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2018 Jan;41(1):125-132.
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Epub 2017 Aug 10
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<span class="bold">PMID: </span><a href="/pubmed/28799142" target="_blank">28799142</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemimegalencephaly%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 (45)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36572450">Prenatal diagnosis and delivery of megalencephaly-capillary malformation syndrome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porwal M,
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Anderson D,
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Razzak AN,
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Fitzgerald G</span><br />
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<span class="medgenPMjournal">BMJ Case Rep</span>
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2022 Dec 26;15(12)
|
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doi: 10.1136/bcr-2022-249587.
|
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<span class="bold">PMID: </span><a href="/pubmed/36572450" target="_blank">36572450</a><a href="/pmc/articles/PMC9806087" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32055976">Minimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sood S,
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Asano E,
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Luat A</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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2020 Apr;36(4):841-845.
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Epub 2020 Feb 14
|
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doi: 10.1007/s00381-020-04534-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/32055976" target="_blank">32055976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24589886">Hemimegalencephaly without epilepsy: case report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">James G,
|
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Shanmuganathan M,
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Harkness W</span><br />
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<span class="medgenPMjournal">Childs Nerv Syst</span>
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2014 Sep;30(9):1617-9.
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Epub 2014 Mar 4
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<span class="bold">PMID: </span><a href="/pubmed/24589886" target="_blank">24589886</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11124637">Hemimegalencephaly and intractable epilepsy: complications of hemispherectomy and their correlations with the surgical technique. A report on 15 cases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Di Rocco C,
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Iannelli A</span><br />
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<span class="medgenPMjournal">Pediatr Neurosurg</span>
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2000 Oct;33(4):198-207.
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<span class="bold">PMID: </span><a href="/pubmed/11124637" target="_blank">11124637</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/2127080">Hemimegalencephaly and neurofibromatosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cusmai R,
|
||
Curatolo P,
|
||
Mangano S,
|
||
Cheminal R,
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Echenne B</span><br />
|
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<span class="medgenPMjournal">Neuropediatrics</span>
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1990 Nov;21(4):179-82.
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||
doi: 10.1055/s-2008-1071490.
|
||
<span class="bold">PMID: </span><a href="/pubmed/2127080" target="_blank">2127080</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemimegalencephaly%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 (98)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/32055976">Minimizing blood loss in hemispherectomy for hemimegalencephaly in low-weight infants: technical note.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sood S,
|
||
Asano E,
|
||
Luat A</span><br />
|
||
<span class="medgenPMjournal">Childs Nerv Syst</span>
|
||
2020 Apr;36(4):841-845.
|
||
Epub 2020 Feb 14
|
||
doi: 10.1007/s00381-020-04534-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32055976" target="_blank">32055976</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31444548">Dissecting the genetic basis of focal cortical dysplasia: a large cohort study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Baldassari S,
|
||
Ribierre T,
|
||
Marsan E,
|
||
Adle-Biassette H,
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||
Ferrand-Sorbets S,
|
||
Bulteau C,
|
||
Dorison N,
|
||
Fohlen M,
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||
Polivka M,
|
||
Weckhuysen S,
|
||
Dorfmüller G,
|
||
Chipaux M,
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||
Baulac S</span><br />
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<span class="medgenPMjournal">Acta Neuropathol</span>
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||
2019 Dec;138(6):885-900.
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||
Epub 2019 Aug 23
|
||
doi: 10.1007/s00401-019-02061-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31444548" target="_blank">31444548</a><a href="/pmc/articles/PMC6851393" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29219786">Periinsular anterior quadrantotomy: technical note.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cossu G,
|
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Lebon S,
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Seeck M,
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Pralong E,
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Messerer M,
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Roulet-Perez E,
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Daniel RT</span><br />
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<span class="medgenPMjournal">J Neurosurg Pediatr</span>
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||
2018 Feb;21(2):124-132.
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||
Epub 2017 Dec 8
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doi: 10.3171/2017.8.PEDS17339.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29219786" target="_blank">29219786</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27614668">Hyaline Protoplasmic Astrocytopathy: A Clinicopathologic Study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Prayson RA</span><br />
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<span class="medgenPMjournal">Am J Clin Pathol</span>
|
||
2016 Oct;146(4):503-9.
|
||
Epub 2016 Sep 10
|
||
doi: 10.1093/ajcp/aqw136.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27614668" target="_blank">27614668</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/16538092">Epilepsy surgery in patients with malformations of cortical development.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lüders H,
|
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Schuele SU</span><br />
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<span class="medgenPMjournal">Curr Opin Neurol</span>
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2006 Apr;19(2):169-74.
|
||
doi: 10.1097/01.wco.0000218234.67840.cb.
|
||
<span class="bold">PMID: </span><a href="/pubmed/16538092" target="_blank">16538092</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Hemimegalencephaly%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 (88)</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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<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_content ln"><ul><li><a href="/gtr/tests?term=C0431391%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (8)</a></li>
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||
<li><a href="/gtr/tests?term=C0431391%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (10)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0431391%5bDISCUI%5d" target="_blank">See all (10)</a></total></li>
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<div class="portlet_content ln"><ul><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=99802" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Hemimegalencephaly" 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=(%22hemimegalencephaly%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">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></ul></div>
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<div class="portlet_content ln"><ul><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Hemimegalencephaly" target="_blank">MedlinePlus</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/2637/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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<a href="/pubmed/clinical?term=Hemimegalencephaly" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=2" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Hemimegalencephaly%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=2" target="_blank">Reviews in PubMed</a>
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