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<!--
|
||
UID=1823957
|
||
ConceptID=C5774184
|
||
-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Neurodevelopmental disorder with epilepsy and brain atrophy<span class="h1sub">(NEDEBA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1823957</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:">C5774184</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>NEDEBA</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ATP6V0A1 - ID: 535 - NCBI Gene" href="/gene/535" class="medgenPMinfo">ATP6V0A1</a> (17q21.2)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0859265" target="_blank">MONDO:0859265</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/619971" target="_blank">619971</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">Neurodevelopmental disorder with epilepsy and brain atrophy (NEDEBA) is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia (summary by Bott et al., 2021). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_56429"><div><strong>Malnutrition</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56429</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.">C0162429</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A deficiency in the intake of energy and nutrients.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/56429">Feature record</a> | <a href="/medgen?term=%22Malnutrition%22%5BClinical%20Features%5D%20OR%2056429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_65429"><div><strong>Feeding difficulties</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65429</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.">C0232466</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/65429">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%22%5BClinical%20Features%5D%20OR%2065429%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_66782"><div><strong>Intermittent diarrhea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66782</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.">C0239181</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Repeated episodes of diarrhea separated by periods without diarrhea.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/66782">Feature record</a> | <a href="/medgen?term=%22Intermittent%20diarrhea%22%5BClinical%20Features%5D%20OR%2066782%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1368658"><div><strong>Gastroesophageal reflux</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1368658</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C4317146</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1368658">Feature record</a> | <a href="/medgen?term=%22Gastroesophageal%20reflux%22%5BClinical%20Features%5D%20OR%201368658%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_849"><div><strong>Cerebellar ataxia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>849</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.">C0007758</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/849">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20ataxia%22%5BClinical%20Features%5D%20OR%20849%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10234"><div><strong>Myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10234</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0027066</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Very brief, involuntary random muscular contractions occurring at rest, in response to sensory stimuli, or accompanying voluntary movements.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10234">Feature record</a> | <a href="/medgen?term=%22Myoclonus%22%5BClinical%20Features%5D%20OR%2010234%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_120578"><div><strong>Cerebellar hypoplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>120578</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.">C0266470</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/120578">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hypoplasia%22%5BClinical%20Features%5D%20OR%20120578%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98433"><div><strong>Spastic tetraplegia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98433</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.">C0426970</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Spastic paralysis affecting all four limbs.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98433">Feature record</a> | <a href="/medgen?term=%22Spastic%20tetraplegia%22%5BClinical%20Features%5D%20OR%2098433%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98129"><div><strong>Cortical dysplasia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98129</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.">C0431380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Congenital Abnormality</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of developmental dysplasia of the cerebral cortex.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98129">Feature record</a> | <a href="/medgen?term=%22Cortical%20dysplasia%22%5BClinical%20Features%5D%20OR%2098129%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_196624"><div><strong>Cerebellar atrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>196624</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.">C0740279</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/196624">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20atrophy%22%5BClinical%20Features%5D%20OR%20196624%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_220387"><div><strong>Attention deficit hyperactivity disorder</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>220387</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.">C1263846</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/220387">Feature record</a> | <a href="/medgen?term=%22Attention%20deficit%20hyperactivity%20disorder%22%5BClinical%20Features%5D%20OR%20220387%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_315948"><div><strong>Epileptic spasm</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>315948</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.">C1527366</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A sudden flexion, extension, or mixed extension-flexion of predominantly proximal and truncal muscles that is usually more sustained than a myoclonic movement but not as sustained as a tonic seizure. Limited forms may occur</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/315948">Feature record</a> | <a href="/medgen?term=%22Epileptic%20spasm%22%5BClinical%20Features%5D%20OR%20315948%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_369943"><div><strong>EEG with burst suppression</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>369943</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.">C1969156</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The burst suppression pattern in electroencephalography refers to a characteristic periodic pattern of low voltage (<10 microvolts) suppressed background and a relatively shorter pattern of higher amplitude slow, sharp, and spiking complexes.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/369943">Feature record</a> | <a href="/medgen?term=%22EEG%20with%20burst%20suppression%22%5BClinical%20Features%5D%20OR%20369943%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_870454"><div><strong>Atrophy/Degeneration affecting the brainstem</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870454</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.">C4024900</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/870454">Feature record</a> | <a href="/medgen?term=%22Atrophy%2FDegeneration%20affecting%20the%20brainstem%22%5BClinical%20Features%5D%20OR%20870454%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1370221"><div><strong>Erratic myoclonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1370221</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.">C4476727</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of myoclonus in which the myoclonias shift from body region to another in a random and asynchronous fashion. Erratic myoclonus can affect the face or limbs, are brief, single or repetitive, very frequent and nearly continuous.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1370221">Feature record</a> | <a href="/medgen?term=%22Erratic%20myoclonus%22%5BClinical%20Features%5D%20OR%201370221%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_14535"><div><strong>Osteoporosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>14535</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.">C0029456</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD).</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/14535">Feature record</a> | <a href="/medgen?term=%22Osteoporosis%22%5BClinical%20Features%5D%20OR%2014535%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_152887"><div><strong>Recurrent aspiration pneumonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>152887</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.">C0747651</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased susceptibility to aspiration pneumonia, defined as pneumonia due to breathing in foreign material, as manifested by a medical history of repeated episodes of aspiration pneumonia.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/152887">Feature record</a> | <a href="/medgen?term=%22Recurrent%20aspiration%20pneumonia%22%5BClinical%20Features%5D%20OR%20152887%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_98316"><div><strong>Mandibular prognathia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>98316</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.">C0399526</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Abnormal prominence of the chin related to increased length of the mandible.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/98316">Feature record</a> | <a href="/medgen?term=%22Mandibular%20prognathia%22%5BClinical%20Features%5D%20OR%2098316%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6936"><div><strong>Polyhydramnios</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6936</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.">C0020224</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The presence of excess amniotic fluid in the uterus during pregnancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6936">Feature record</a> | <a href="/medgen?term=%22Polyhydramnios%22%5BClinical%20Features%5D%20OR%206936%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of head or neck</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98316" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Mandibular prognathia</a></span></li></ul></li><li><span class="TLline">Abnormality of prenatal development or birth</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6936" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Polyhydramnios</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1368658" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Gastroesophageal reflux</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66782" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intermittent diarrhea</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56429" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Malnutrition</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_152887" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Recurrent aspiration pneumonia</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_14535" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Osteoporosis</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870454" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Atrophy/Degeneration affecting the brainstem</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_220387" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Attention deficit hyperactivity disorder</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_849" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar ataxia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_196624" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar atrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_120578" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hypoplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98129" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cortical dysplasia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_369943" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">EEG with burst suppression</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_315948" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Epileptic spasm</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1370221" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Erratic myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10234" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Myoclonus</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_98433" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Spastic tetraplegia</a></span></li></ul></li></ul></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/23606552">Adrenocorticotropic hormone for the treatment of West Syndrome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shumiloff NA,
|
||
Lam WM,
|
||
Manasco KB</span><br />
|
||
<span class="medgenPMjournal">Ann Pharmacother</span>
|
||
2013 May;47(5):744-54.
|
||
Epub 2013 Apr 19
|
||
doi: 10.1345/aph.1R535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23606552" target="_blank">23606552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/9504785">Unusual features in children with inv dup(15) supernumerary marker: a study of genotype-phenotype correlation in Taiwan.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hou JW,
|
||
Wang TR</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
1998 Feb;157(2):122-7.
|
||
doi: 10.1007/s004310050782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/9504785" target="_blank">9504785</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy)%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 (2)</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/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
|
||
Sudhakar S,
|
||
Biswas A,
|
||
Massey F,
|
||
Turchetti V,
|
||
Lau T,
|
||
Cook E,
|
||
Alvi JR,
|
||
Elbendary HM,
|
||
Jewell JL,
|
||
Riva A,
|
||
Orsini A,
|
||
Vignoli A,
|
||
Federico Z,
|
||
Rosenblum J,
|
||
Schoonjans AS,
|
||
de Wachter M,
|
||
Delgado Alvarez I,
|
||
Felipe-Rucián A,
|
||
Haridy NA,
|
||
Haider S,
|
||
Zaman M,
|
||
Banu S,
|
||
Anwaar N,
|
||
Rahman F,
|
||
Maqbool S,
|
||
Yadav R,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Patel R,
|
||
Radhakrishnan R,
|
||
Prabhu SP,
|
||
Lichtenbelt K,
|
||
Stewart H,
|
||
Murakami Y,
|
||
Löbel U,
|
||
D'Arco F,
|
||
Wakeling E,
|
||
Jones W,
|
||
Hay E,
|
||
Bhate S,
|
||
Jacques TS,
|
||
Mirsky DM,
|
||
Whitehead MT,
|
||
Zaki MS,
|
||
Sultan T,
|
||
Striano P,
|
||
Jansen AC,
|
||
Lequin M,
|
||
de Vries LS,
|
||
Severino M,
|
||
Edmondson AC,
|
||
Menzies L,
|
||
Campeau PM,
|
||
Houlden H,
|
||
McTague A,
|
||
Efthymiou S,
|
||
Mankad K</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Aug 1;147(8):2775-2790.
|
||
doi: 10.1093/brain/awae056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38456468" target="_blank">38456468</a><a href="/pmc/articles/PMC11292905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34695666">Clinical and genetic profile of children with unexplained intellectual disability/developmental delay and epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nouri N,
|
||
Bahreini A,
|
||
Nasiri J,
|
||
Salehi M</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2021 Nov;177:106782.
|
||
Epub 2021 Oct 5
|
||
doi: 10.1016/j.eplepsyres.2021.106782.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34695666" target="_blank">34695666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33640666">CASK related disorder: Epilepsy and developmental outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giacomini T,
|
||
Nuovo S,
|
||
Zanni G,
|
||
Mancardi MM,
|
||
Cusmai R,
|
||
Pepi C,
|
||
Bertini E,
|
||
Valente EM,
|
||
Battini R,
|
||
Ferrari A,
|
||
Romaniello R,
|
||
Zucca C,
|
||
Borgatti R,
|
||
Uccella S,
|
||
Severino M,
|
||
Striano P,
|
||
Pistorio A,
|
||
Prato G,
|
||
De Grandis E,
|
||
Nobili L,
|
||
Pisciotta L</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Mar;31:61-69.
|
||
Epub 2021 Feb 19
|
||
doi: 10.1016/j.ejpn.2021.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33640666" target="_blank">33640666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29112993">Congenital Disorders of Autophagy: What a Pediatric Neurologist Should Know.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ebrahimi-Fakhari D</span><br />
|
||
<span class="medgenPMjournal">Neuropediatrics</span>
|
||
2018 Feb;49(1):18-25.
|
||
Epub 2017 Nov 7
|
||
doi: 10.1055/s-0037-1608652.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29112993" target="_blank">29112993</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24839169">Genetic disorders associated with postnatal microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seltzer LE,
|
||
Paciorkowski AR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):140-55.
|
||
Epub 2014 May 16
|
||
doi: 10.1002/ajmg.c.31400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24839169" target="_blank">24839169</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy%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 (70)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37804316">Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Franchino CA,
|
||
Brughera M,
|
||
Baderna V,
|
||
De Ritis D,
|
||
Rocco A,
|
||
Seneca S,
|
||
Regal L,
|
||
Podini P,
|
||
D'Antonio M,
|
||
Toro C,
|
||
Quattrini A,
|
||
Scalais E,
|
||
Maltecca F</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Mar 1;147(3):1043-1056.
|
||
doi: 10.1093/brain/awad340.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37804316" target="_blank">37804316</a><a href="/pmc/articles/PMC10907083" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37517035">Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maroofian R,
|
||
Kaiyrzhanov R,
|
||
Cali E,
|
||
Zamani M,
|
||
Zaki MS,
|
||
Ferla M,
|
||
Tortora D,
|
||
Sadeghian S,
|
||
Saadi SM,
|
||
Abdullah U,
|
||
Karimiani EG,
|
||
Efthymiou S,
|
||
Yeşil G,
|
||
Alavi S,
|
||
Al Shamsi AM,
|
||
Tajsharghi H,
|
||
Abdel-Hamid MS,
|
||
Saadi NW,
|
||
Al Mutairi F,
|
||
Alabdi L,
|
||
Beetz C,
|
||
Ali Z,
|
||
Toosi MB,
|
||
Rudnik-Schöneborn S,
|
||
Babaei M,
|
||
Isohanni P,
|
||
Muhammad J,
|
||
Khan S,
|
||
Al Shalan M,
|
||
Hickey SE,
|
||
Marom D,
|
||
Elhanan E,
|
||
Kurian MA,
|
||
Marafi D,
|
||
Saberi A,
|
||
Hamid M,
|
||
Spaull R,
|
||
Meng L,
|
||
Lalani S,
|
||
Maqbool S,
|
||
Rahman F,
|
||
Seeger J,
|
||
Palculict TB,
|
||
Lau T,
|
||
Murphy D,
|
||
Mencacci NE,
|
||
Steindl K,
|
||
Begemann A,
|
||
Rauch A,
|
||
Akbas S,
|
||
Aslanger AD,
|
||
Salpietro V,
|
||
Yousaf H,
|
||
Ben-Shachar S,
|
||
Ejeskär K,
|
||
Al Aqeel AI,
|
||
High FA,
|
||
Armstrong-Javors AE,
|
||
Zahraei SM,
|
||
Seifi T,
|
||
Zeighami J,
|
||
Shariati G,
|
||
Sedaghat A,
|
||
Asl SN,
|
||
Shahrooei M,
|
||
Zifarelli G,
|
||
Burglen L,
|
||
Ravelli C,
|
||
Zschocke J,
|
||
Schatz UA,
|
||
Ghavideldarestani M,
|
||
Kamel WA,
|
||
Van Esch H,
|
||
Hackenberg A,
|
||
Taylor JC,
|
||
Al-Gazali L,
|
||
Bauer P,
|
||
Gleeson JJ,
|
||
Alkuraya FS,
|
||
Lupski JR,
|
||
Galehdari H,
|
||
Azizimalamiri R,
|
||
Chung WK,
|
||
Baig SM,
|
||
Houlden H,
|
||
Severino M</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5031-5043.
|
||
doi: 10.1093/brain/awad257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37517035" target="_blank">37517035</a><a href="/pmc/articles/PMC10690011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33640666">CASK related disorder: Epilepsy and developmental outcome.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Giacomini T,
|
||
Nuovo S,
|
||
Zanni G,
|
||
Mancardi MM,
|
||
Cusmai R,
|
||
Pepi C,
|
||
Bertini E,
|
||
Valente EM,
|
||
Battini R,
|
||
Ferrari A,
|
||
Romaniello R,
|
||
Zucca C,
|
||
Borgatti R,
|
||
Uccella S,
|
||
Severino M,
|
||
Striano P,
|
||
Pistorio A,
|
||
Prato G,
|
||
De Grandis E,
|
||
Nobili L,
|
||
Pisciotta L</span><br />
|
||
<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
|
||
2021 Mar;31:61-69.
|
||
Epub 2021 Feb 19
|
||
doi: 10.1016/j.ejpn.2021.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33640666" target="_blank">33640666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24839169">Genetic disorders associated with postnatal microcephaly.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Seltzer LE,
|
||
Paciorkowski AR</span><br />
|
||
<span class="medgenPMjournal">Am J Med Genet C Semin Med Genet</span>
|
||
2014 Jun;166C(2):140-55.
|
||
Epub 2014 May 16
|
||
doi: 10.1002/ajmg.c.31400.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24839169" target="_blank">24839169</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4176403">Cerebellar atrophy in epilepsy. Pneumographic and histological documentation of a case with psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afifi AK,
|
||
Van Allen MW</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1968 Apr;31(2):169-74.
|
||
doi: 10.1136/jnnp.31.2.169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4176403" target="_blank">4176403</a><a href="/pmc/articles/PMC496319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy%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 (107)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23606552">Adrenocorticotropic hormone for the treatment of West Syndrome in children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Shumiloff NA,
|
||
Lam WM,
|
||
Manasco KB</span><br />
|
||
<span class="medgenPMjournal">Ann Pharmacother</span>
|
||
2013 May;47(5):744-54.
|
||
Epub 2013 Apr 19
|
||
doi: 10.1345/aph.1R535.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23606552" target="_blank">23606552</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17101920">Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Galimberti CA,
|
||
Diegoli M,
|
||
Sartori I,
|
||
Uggetti C,
|
||
Brega A,
|
||
Tartara A,
|
||
Arbustini E</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2006 Nov 14;67(9):1715-7.
|
||
doi: 10.1212/01.wnl.0000242882.58086.9a.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17101920" target="_blank">17101920</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/11587880">Kawasaki disease with predominant central nervous system involvement.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tabarki B,
|
||
Mahdhaoui A,
|
||
Selmi H,
|
||
Yacoub M,
|
||
Essoussi AS</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2001 Sep;25(3):239-41.
|
||
doi: 10.1016/s0887-8994(01)00290-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/11587880" target="_blank">11587880</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4213397">Sterotactic hypothalamotomy in erethic children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Arjona VE</span><br />
|
||
<span class="medgenPMjournal">Acta Neurochir (Wien)</span>
|
||
1974;Suppl 21:185-91.
|
||
doi: 10.1007/978-3-7091-8355-7_25.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4213397" target="_blank">4213397</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/4176403">Cerebellar atrophy in epilepsy. Pneumographic and histological documentation of a case with psychosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Afifi AK,
|
||
Van Allen MW</span><br />
|
||
<span class="medgenPMjournal">J Neurol Neurosurg Psychiatry</span>
|
||
1968 Apr;31(2):169-74.
|
||
doi: 10.1136/jnnp.31.2.169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/4176403" target="_blank">4176403</a><a href="/pmc/articles/PMC496319" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy%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 (27)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
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Sudhakar S,
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Biswas A,
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Massey F,
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Turchetti V,
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Lau T,
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Cook E,
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Alvi JR,
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Elbendary HM,
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Jewell JL,
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Riva A,
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Orsini A,
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Vignoli A,
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Federico Z,
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Rosenblum J,
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Schoonjans AS,
|
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de Wachter M,
|
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Delgado Alvarez I,
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Felipe-Rucián A,
|
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Haridy NA,
|
||
Haider S,
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Zaman M,
|
||
Banu S,
|
||
Anwaar N,
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||
Rahman F,
|
||
Maqbool S,
|
||
Yadav R,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Patel R,
|
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Radhakrishnan R,
|
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Prabhu SP,
|
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Lichtenbelt K,
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Stewart H,
|
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Murakami Y,
|
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Löbel U,
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D'Arco F,
|
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Wakeling E,
|
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Jones W,
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Hay E,
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Bhate S,
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Jacques TS,
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Mirsky DM,
|
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Whitehead MT,
|
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Zaki MS,
|
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Sultan T,
|
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Striano P,
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Jansen AC,
|
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Lequin M,
|
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de Vries LS,
|
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Severino M,
|
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Edmondson AC,
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Menzies L,
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Campeau PM,
|
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Houlden H,
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McTague A,
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Efthymiou S,
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Mankad K</span><br />
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<span class="medgenPMjournal">Brain</span>
|
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2024 Aug 1;147(8):2775-2790.
|
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doi: 10.1093/brain/awae056.
|
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<span class="bold">PMID: </span><a href="/pubmed/38456468" target="_blank">38456468</a><a href="/pmc/articles/PMC11292905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/33640666">CASK related disorder: Epilepsy and developmental outcome.</a></div>
|
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<div class="portlet_content ln"><span class="medgenPMauthor">Giacomini T,
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Nuovo S,
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Zanni G,
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Mancardi MM,
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Cusmai R,
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Pepi C,
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Bertini E,
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Valente EM,
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Battini R,
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Ferrari A,
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Romaniello R,
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Zucca C,
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Borgatti R,
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Uccella S,
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Severino M,
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Striano P,
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Pistorio A,
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Prato G,
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De Grandis E,
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Nobili L,
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Pisciotta L</span><br />
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<span class="medgenPMjournal">Eur J Paediatr Neurol</span>
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2021 Mar;31:61-69.
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Epub 2021 Feb 19
|
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doi: 10.1016/j.ejpn.2021.02.006.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33640666" target="_blank">33640666</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31631344">The epileptology of GNB5 encephalopathy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Poke G,
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King C,
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Muir A,
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de Valles-Ibáñez G,
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Germano M,
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Moura de Souza CF,
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Fung J,
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Chung B,
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Fung CW,
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Mignot C,
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Ilea A,
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Keren B,
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Vermersch AI,
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Davis S,
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Stanley T,
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Moharir M,
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Kannu P,
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Shao Z,
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Malerba N,
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Merla G,
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Mefford HC,
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Scheffer IE,
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Sadleir LG</span><br />
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<span class="medgenPMjournal">Epilepsia</span>
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2019 Nov;60(11):e121-e127.
|
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Epub 2019 Oct 20
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||
doi: 10.1111/epi.16372.
|
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<span class="bold">PMID: </span><a href="/pubmed/31631344" target="_blank">31631344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29050398">Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Syrbe S,
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Harms FL,
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Parrini E,
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Montomoli M,
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Mütze U,
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Helbig KL,
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Polster T,
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Albrecht B,
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Bernbeck U,
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van Binsbergen E,
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Biskup S,
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Burglen L,
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Denecke J,
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Heron B,
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Heyne HO,
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Hoffmann GF,
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Hornemann F,
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Matsushige T,
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Matsuura R,
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Kato M,
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Korenke GC,
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Kuechler A,
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Lämmer C,
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Merkenschlager A,
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Mignot C,
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Ruf S,
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Nakashima M,
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Saitsu H,
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Stamberger H,
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Pisano T,
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Tohyama J,
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Weckhuysen S,
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Werckx W,
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Wickert J,
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Mari F,
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Verbeek NE,
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Møller RS,
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Koeleman B,
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Matsumoto N,
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Dobyns WB,
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Battaglia D,
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Lemke JR,
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Kutsche K,
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Guerrini R</span><br />
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<span class="medgenPMjournal">Brain</span>
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2017 Sep 1;140(9):2322-2336.
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doi: 10.1093/brain/awx195.
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<span class="bold">PMID: </span><a href="/pubmed/29050398" target="_blank">29050398</a><a href="/pmc/articles/PMC6248409" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26386136">Translational potential of astrocytes in brain disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Verkhratsky A,
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Steardo L,
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Parpura V,
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Montana V</span><br />
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<span class="medgenPMjournal">Prog Neurobiol</span>
|
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2016 Sep;144:188-205.
|
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Epub 2015 Sep 16
|
||
doi: 10.1016/j.pneurobio.2015.09.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26386136" target="_blank">26386136</a><a href="/pmc/articles/PMC4794425" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy%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 (51)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38456468">The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sidpra J,
|
||
Sudhakar S,
|
||
Biswas A,
|
||
Massey F,
|
||
Turchetti V,
|
||
Lau T,
|
||
Cook E,
|
||
Alvi JR,
|
||
Elbendary HM,
|
||
Jewell JL,
|
||
Riva A,
|
||
Orsini A,
|
||
Vignoli A,
|
||
Federico Z,
|
||
Rosenblum J,
|
||
Schoonjans AS,
|
||
de Wachter M,
|
||
Delgado Alvarez I,
|
||
Felipe-Rucián A,
|
||
Haridy NA,
|
||
Haider S,
|
||
Zaman M,
|
||
Banu S,
|
||
Anwaar N,
|
||
Rahman F,
|
||
Maqbool S,
|
||
Yadav R,
|
||
Salpietro V,
|
||
Maroofian R,
|
||
Patel R,
|
||
Radhakrishnan R,
|
||
Prabhu SP,
|
||
Lichtenbelt K,
|
||
Stewart H,
|
||
Murakami Y,
|
||
Löbel U,
|
||
D'Arco F,
|
||
Wakeling E,
|
||
Jones W,
|
||
Hay E,
|
||
Bhate S,
|
||
Jacques TS,
|
||
Mirsky DM,
|
||
Whitehead MT,
|
||
Zaki MS,
|
||
Sultan T,
|
||
Striano P,
|
||
Jansen AC,
|
||
Lequin M,
|
||
de Vries LS,
|
||
Severino M,
|
||
Edmondson AC,
|
||
Menzies L,
|
||
Campeau PM,
|
||
Houlden H,
|
||
McTague A,
|
||
Efthymiou S,
|
||
Mankad K</span><br />
|
||
<span class="medgenPMjournal">Brain</span>
|
||
2024 Aug 1;147(8):2775-2790.
|
||
doi: 10.1093/brain/awae056.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38456468" target="_blank">38456468</a><a href="/pmc/articles/PMC11292905" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37517035">Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Maroofian R,
|
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Kaiyrzhanov R,
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Cali E,
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Zamani M,
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Zaki MS,
|
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Ferla M,
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Tortora D,
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Sadeghian S,
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Saadi SM,
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Abdullah U,
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Karimiani EG,
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Efthymiou S,
|
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Yeşil G,
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Alavi S,
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Al Shamsi AM,
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Tajsharghi H,
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Abdel-Hamid MS,
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Saadi NW,
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Al Mutairi F,
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Alabdi L,
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Beetz C,
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Ali Z,
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Toosi MB,
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Rudnik-Schöneborn S,
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Babaei M,
|
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Isohanni P,
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Muhammad J,
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Khan S,
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Al Shalan M,
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Hickey SE,
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Marom D,
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Elhanan E,
|
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Kurian MA,
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Marafi D,
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Saberi A,
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Hamid M,
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Spaull R,
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Meng L,
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Lalani S,
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Maqbool S,
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Rahman F,
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Seeger J,
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Palculict TB,
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Lau T,
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Murphy D,
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Mencacci NE,
|
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Steindl K,
|
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Begemann A,
|
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Rauch A,
|
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Akbas S,
|
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Aslanger AD,
|
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Salpietro V,
|
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Yousaf H,
|
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Ben-Shachar S,
|
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Ejeskär K,
|
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Al Aqeel AI,
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High FA,
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Armstrong-Javors AE,
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Zahraei SM,
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Seifi T,
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Zeighami J,
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Shariati G,
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Sedaghat A,
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Asl SN,
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Shahrooei M,
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Zifarelli G,
|
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Burglen L,
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Ravelli C,
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Zschocke J,
|
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Schatz UA,
|
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Ghavideldarestani M,
|
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Kamel WA,
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Van Esch H,
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Hackenberg A,
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Taylor JC,
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Al-Gazali L,
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Bauer P,
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Gleeson JJ,
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Alkuraya FS,
|
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Lupski JR,
|
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Galehdari H,
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Azizimalamiri R,
|
||
Chung WK,
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||
Baig SM,
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Houlden H,
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||
Severino M</span><br />
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<span class="medgenPMjournal">Brain</span>
|
||
2023 Dec 1;146(12):5031-5043.
|
||
doi: 10.1093/brain/awad257.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37517035" target="_blank">37517035</a><a href="/pmc/articles/PMC10690011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/35670379">TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Musante L,
|
||
Faletra F,
|
||
Meier K,
|
||
Tomoum H,
|
||
Najarzadeh Torbati P,
|
||
Blair E,
|
||
North S,
|
||
Gärtner J,
|
||
Diegmann S,
|
||
Beiraghi Toosi M,
|
||
Ashrafzadeh F,
|
||
Ghayoor Karimiani E,
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||
Murphy D,
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||
Murru FM,
|
||
Zanus C,
|
||
Magnolato A,
|
||
La Bianca M,
|
||
Feresin A,
|
||
Girotto G,
|
||
Gasparini P,
|
||
Costa P,
|
||
Carrozzi M</span><br />
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||
<span class="medgenPMjournal">Am J Med Genet A</span>
|
||
2022 Sep;188(9):2652-2665.
|
||
Epub 2022 Jun 7
|
||
doi: 10.1002/ajmg.a.62852.
|
||
<span class="bold">PMID: </span><a href="/pubmed/35670379" target="_blank">35670379</a><a href="/pmc/articles/PMC9541101" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34878169">Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Majethia P,
|
||
Do Rosario MC,
|
||
Kaur P,
|
||
Karanvir,
|
||
Shankar R,
|
||
Sharma S,
|
||
Siddiqui S,
|
||
Shukla A</span><br />
|
||
<span class="medgenPMjournal">Ann Hum Genet</span>
|
||
2022 Mar;86(2):94-101.
|
||
Epub 2021 Dec 8
|
||
doi: 10.1111/ahg.12452.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34878169" target="_blank">34878169</a><a href="/pmc/articles/PMC9990823" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33985586">Calcium channelopathies and intellectual disability: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kessi M,
|
||
Chen B,
|
||
Peng J,
|
||
Yan F,
|
||
Yang L,
|
||
Yin F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 13;16(1):219.
|
||
doi: 10.1186/s13023-021-01850-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33985586" target="_blank">33985586</a><a href="/pmc/articles/PMC8120735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy%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 (66)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/33985586">Calcium channelopathies and intellectual disability: a systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kessi M,
|
||
Chen B,
|
||
Peng J,
|
||
Yan F,
|
||
Yang L,
|
||
Yin F</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 May 13;16(1):219.
|
||
doi: 10.1186/s13023-021-01850-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33985586" target="_blank">33985586</a><a href="/pmc/articles/PMC8120735" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
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|
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|
||
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|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
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|
||
|
||
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=619971" target="_blank">OMIM</a></li><li><a href="https://clinicaltrials.gov/search?cond=Neurodevelopmental%20disorder%20with%20epilepsy%20and%20brain%20atrophy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
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|
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67cd3925b15b832ebca5d52e">Neurodevelopmental disorder with epilepsy and brain atrophy</a>
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