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<meta name="keywords" content="C1849508, aasa dehydrogenase deficiency, aldh7a1, antiquitin deficiency, disease or syndrome, epd, epeo4, epilepsy, early-onset, 4, vitamin b6-dependent, epilepsy, pyridoxine-dependent, pde, pyridoxine dependency, pyridoxine dependency with seizures, pyridoxine-dependent epilepsy, pyridoxine-dependent seizures, vitamin b6-dependent seizures, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE-ALDH7A1. Intellectual disability is common, particularly in classic PDE-ALDH7A1. In classic PDE-ALDH7A1, untreated seizures begin within the first weeks to months of life. Dramatic presentations of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Electrographic seizures can occur without clinical correlates. In atypical PDE-ALDH7A1, findings in untreated individuals can include late-onset seizures beginning between late infancy and age three years, seizures that initially respond to anti-seizure medication and then become intractable, seizures during early life that do not respond to pyridoxine but are subsequently controlled with pyridoxine several months later, and prolonged seizure-free intervals (=5 months) that occur after discontinuation of pyridoxine." /><meta name="robots" content="index,nofollow,noarchive" />
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<div><div class="rprt full-rprt"><div class="portlet" style="border-top-style: none; margin-top: 0px; padding-top: 0px; margin-bottom: 0px; padding-left: 0.2em;">
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<!--
|
||
UID=340341
|
||
ConceptID=C1849508
|
||
-->
|
||
<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1486/bin/pds-Image001.gif" src-large="/books/NBK1486/bin/pds-Image001.jpg" /></a><br /><a href="/books/NBK1486/figure/pds.F1/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK1486/bin/pds-Image002.gif" src-large="/books/NBK1486/bin/pds-Image002.jpg" /></a><br /><a href="/books/NBK1486/figure/pds.F2/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Pyridoxine-dependent epilepsy<span class="h1sub">(EPEO4)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340341</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:">C1849508</span></a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>EPEO4; EPILEPSY, EARLY-ONSET, 4, VITAMIN B6-DEPENDENT; Pyridoxine dependency; PYRIDOXINE DEPENDENCY WITH SEIZURES; Pyridoxine-Dependent Seizures; Vitamin B6-dependent seizures</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Pyridoxine-dependent epilepsy (734434007); Antiquitin deficiency (734434007); Vitamin B6-dependent seizures (734434007)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="ALDH7A1 - ID: 501 - NCBI Gene" href="/gene/501" class="medgenPMinfo">ALDH7A1</a> (5q23.2)</td></tr>
|
||
<tr><td><a class="help" data-jig="ncbipopper" href="#target-gene-related">Related gene:<img src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div id="target-gene-related" class="display-none">
|
||
Gene(s) associated with related conditions. For conditions<br />
|
||
in a hierarchy, the parent condition will list the genes<br />
|
||
associated with the children conditions.</div></td>
|
||
<td><a target="_blank" href="/gene/11212">PLPBP</a></td></tr><tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009945" target="_blank">MONDO:0009945</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/266100" target="_blank">266100</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=3006">ORPHA3006</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
|
||
<div class="portlet mgSection" id="ID_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK1486" target="_blank">Pyridoxine-Dependent Epilepsy – ALDH7A1</a></div><div>Pyridoxine-dependent epilepsy – ALDH7A1 (PDE-ALDH7A1) is characterized by seizures not well controlled with anti-seizure medication that are responsive clinically and electrographically to large daily supplements of pyridoxine (vitamin B6). This is true across a phenotypic spectrum that ranges from classic to atypical PDE-ALDH7A1. Intellectual disability is common, particularly in classic PDE-ALDH7A1. In classic PDE-ALDH7A1, untreated seizures begin within the first weeks to months of life. Dramatic presentations of prolonged seizures and recurrent episodes of status epilepticus are typical; recurrent self-limited events including partial seizures, generalized seizures, atonic seizures, myoclonic events, and infantile spasms also occur. Electrographic seizures can occur without clinical correlates. In atypical PDE-ALDH7A1, findings in untreated individuals can include late-onset seizures beginning between late infancy and age three years, seizures that initially respond to anti-seizure medication and then become intractable, seizures during early life that do not respond to pyridoxine but are subsequently controlled with pyridoxine several months later, and prolonged seizure-free intervals (≤5 months) that occur after discontinuation of pyridoxine. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK1486#pds.Summary" target="NBK1486">Summary</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Diagnosis" target="NBK1486">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Clinical_Characteristics" target="NBK1486">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Genetically_Related_Allelic_Disorder" target="NBK1486">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Differential_Diagnosis" target="NBK1486">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Management" target="NBK1486">Management</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Genetic_Counseling" target="NBK1486">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Resources" target="NBK1486">Resources</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Molecular_Genetics" target="NBK1486">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.Chapter_Notes" target="NBK1486">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK1486#pds.References" target="NBK1486">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Sidney M Gospe <a href="/books/NBK1486" target="NBK1486" title="NCBI Bookshelf: Pyridoxine-Dependent Epilepsy – ALDH7A1">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Early-onset vitamin B6-dependent epilespy-4 (EPEO4), characterized by a combination of various seizure types, usually occurs in the first hours of life and is unresponsive to standard anticonvulsants, responding only to immediate administration of pyridoxine hydrochloride. The dependence is permanent, and the interruption of daily pyridoxine supplementation leads to the recurrence of seizures. Some patients show developmental delay. The prevalence is estimated at 1 in 400,000 to 700,000 (Bennett et al., 2005).
|
||
For a discussion of genetic heterogeneity of EPEO, see 617290. <a target="_blank" href="http://www.omim.org/entry/266100">http://www.omim.org/entry/266100</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy or, in some cases, before birth. Those affected typically experience prolonged seizures lasting several minutes (status epilepticus). These seizures involve muscle rigidity, convulsions, and loss of consciousness (tonic-clonic seizures). Additional features of pyridoxine-dependent epilepsy include low body temperature (hypothermia), poor muscle tone (dystonia) soon after birth, and irritability before a seizure episode. In rare instances, children with this condition do not have seizures until they are 1 to 3 years old.<br /><br />Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxine-dependent epilepsy. Instead, people with this type of seizure are medically treated with large daily doses of pyridoxine (a type of vitamin B6 found in food). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy). Even though seizures can be controlled with pyridoxine, neurological problems such as developmental delay and learning disorders may still occur. <a target="_blank" href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy">https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy</a></div></div>
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</div>
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||
<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_9335"><div><strong>Hydrocephalus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>9335</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.">C0020255</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/9335">Feature record</a> | <a href="/medgen?term=%22Hydrocephalus%22%5BClinical%20Features%5D%20OR%209335%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_11586"><div><strong>Status epilepticus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>11586</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.">C0038220</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsible for seizure termination or from the initiation of mechanisms which lead to abnormally prolonged seizures (after time point t1). It is a condition that can have long-term consequences (after time point t2), including neuronal death, neuronal injury, and alteration of neuronal networks, depending on the type and duration of seizures.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/11586">Feature record</a> | <a href="/medgen?term=%22Status%20epilepticus%22%5BClinical%20Features%5D%20OR%2011586%5Buid%5D">Search on this feature</a></div></div>
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||
<div class="divPopper rprt" id="clin_66708"><div><strong>Clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>66708</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.">C0234535</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A clonic seizure is a type of motor seizure characterized by sustained rhythmic jerking, that is regularly repetitive.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/66708">Feature record</a> | <a href="/medgen?term=%22Clonic%20seizure%22%5BClinical%20Features%5D%20OR%2066708%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_105318"><div><strong>Delayed speech and language development</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>105318</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.">C0454644</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">A degree of language development that is significantly below the norm for a child of a specified age.</div>
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||
<div class="spaceAbove nowrap">See: <a href="/medgen/105318">Feature record</a> | <a href="/medgen?term=%22Delayed%20speech%20and%20language%20development%22%5BClinical%20Features%5D%20OR%20105318%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_141670"><div><strong>Bilateral tonic-clonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141670</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.">C0494475</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to minutes) and then a clonic (bilateral sustained rhythmic jerking) phase.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/141670">Feature record</a> | <a href="/medgen?term=%22Bilateral%20tonic-clonic%20seizure%22%5BClinical%20Features%5D%20OR%20141670%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_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>
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||
<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_892704"><div><strong>Generalized myoclonic seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>892704</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.">C4021759</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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||
<div class="spaceAbove">A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/892704">Feature record</a> | <a href="/medgen?term=%22Generalized%20myoclonic%20seizure%22%5BClinical%20Features%5D%20OR%20892704%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_924182"><div><strong>Neonatal respiratory distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>924182</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.">C4281993</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Respiratory difficulty as newborn.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/924182">Feature record</a> | <a href="/medgen?term=%22Neonatal%20respiratory%20distress%22%5BClinical%20Features%5D%20OR%20924182%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1815098"><div><strong>Elevated circulating alpha-aminoadipic semialdehyde concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1815098</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.">C5706192</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Increased concentration of alpha-aminoadipic semialdehyde in the blood circulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1815098">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20alpha-aminoadipic%20semialdehyde%20concentration%22%5BClinical%20Features%5D%20OR%201815098%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1863581"><div><strong>Elevated circulating pipecolic acid concentration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863581</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.">C5891174</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">The concentration of pipecolic acid in the blood circulation is above the upper limit of normal.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1863581">Feature record</a> | <a href="/medgen?term=%22Elevated%20circulating%20pipecolic%20acid%20concentration%22%5BClinical%20Features%5D%20OR%201863581%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5164"><div><strong>Fetal distress</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5164</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.">C0015930</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An intrauterine state characterized by suboptimal values in the fetal heart rate, oxygenation of fetal blood, or other parameters indicative of compromise of the fetus. Signs of fetal distress include repetitive variable decelerations, fetal tachycardia or bradycardia, late decelerations, or low biophysical profile.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5164">Feature record</a> | <a href="/medgen?term=%22Fetal%20distress%22%5BClinical%20Features%5D%20OR%205164%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_340343"><div><strong>Prenatal movement abnormality</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>340343</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.">C1849510</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An abnormality of fetal movement.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/340343">Feature record</a> | <a href="/medgen?term=%22Prenatal%20movement%20abnormality%22%5BClinical%20Features%5D%20OR%20340343%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_21337"><div><strong>Strabismus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>21337</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.">C0038379</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/21337">Feature record</a> | <a href="/medgen?term=%22Strabismus%22%5BClinical%20Features%5D%20OR%2021337%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1815098" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating alpha-aminoadipic semialdehyde concentration</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863581" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated circulating pipecolic acid concentration</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_5164" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Fetal distress</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_340343" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Prenatal movement abnormality</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_21337" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Strabismus</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_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</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_141670" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bilateral tonic-clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_66708" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Clonic seizure</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_105318" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Delayed speech and language development</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_892704" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized myoclonic seizure</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_9335" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hydrocephalus</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_11586" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Status epilepticus</a></span></li></ul></li><li><span class="TLline">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_924182" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Neonatal respiratory distress</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><li><a href="#tabORDO">Orphanet</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1849508[DISCUI]&test_type=Clinical" ref="ncbi_uid=340341">C</a></span><span class="chiclet Rcolor round" title="Research test"><a target="_blank" href="/gtr/tests/?term=C1849508[DISCUI]&test_type=Research&redirect=true" ref="ncbi_uid=340341">R</a></span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=340341" target="_blank" href="/omim/107323">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1486/" ref="ncbi_uid=340341">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=340341" ref="ncbi_uid=340341">V</a></span></span><span class="TLline">Pyridoxine-dependent epilepsy</span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4310632[DISCUI]&test_type=Clinical" ref="ncbi_uid=934599">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=934599" target="_blank" href="/omim/604436">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK589231/" ref="ncbi_uid=934599">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=934599" ref="ncbi_uid=934599">V</a></span></span><span class="TLline"><a href="/medgen/934599" ref="tree=GTR&ncbi_uid=934599&link_uid=934599" title="View MedGen record for 'Epilepsy, early-onset, vitamin B6-dependent'">Epilepsy, early-onset, vitamin B6-dependent</a></span></li><li class="TLclosed"><span class="TLline"><a href="/medgen/976783" ref="tree=GTR&ncbi_uid=976783&link_uid=976783" title="View MedGen record for 'Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant'">Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842882" ref="tree=MeSH" title="MedGen record for Inborn disorder of pyridoxine metabolism">Inborn disorder of pyridoxine metabolism</a></span><ul><li><span class="matched_ds">Pyridoxine-dependent epilepsy</span><ul><li><span class="TLline"><a href="/medgen/934599" ref="tree=MeSH" title="MedGen record for Epilepsy, early-onset, vitamin B6-dependent">Epilepsy, early-onset, vitamin B6-dependent</a></span></li><li><span class="TLline"><a href="/medgen/976783" ref="tree=MeSH" title="MedGen record for Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant">Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant</a></span></li></ul></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=880&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Pyridoxine-dependent epilepsy</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200442">Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Tseng LA,
|
||
Abdenur JE,
|
||
Ashmore C,
|
||
Boemer F,
|
||
Bok LA,
|
||
Boyer M,
|
||
Buhas D,
|
||
Clayton PT,
|
||
Das A,
|
||
Dekker H,
|
||
Evangeliou A,
|
||
Feillet F,
|
||
Footitt EJ,
|
||
Gospe SM Jr,
|
||
Hartmann H,
|
||
Kara M,
|
||
Kristensen E,
|
||
Lee J,
|
||
Lilje R,
|
||
Longo N,
|
||
Lunsing RJ,
|
||
Mills P,
|
||
Papadopoulou MT,
|
||
Pearl PL,
|
||
Piazzon F,
|
||
Plecko B,
|
||
Saini AG,
|
||
Santra S,
|
||
Sjarif DR,
|
||
Stockler-Ipsiroglu S,
|
||
Striano P,
|
||
Van Hove JLK,
|
||
Verhoeven-Duif NM,
|
||
Wijburg FA,
|
||
Zuberi SM,
|
||
van Karnebeek CDM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):178-192.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1002/jimd.12332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200442" target="_blank">33200442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31570297">Priorities for Newborn Screening of Genetic Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hess-Homeier DL,
|
||
Cunniff C,
|
||
Grinspan ZM</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2019 Dec;101:83-85.
|
||
Epub 2019 Jul 29
|
||
doi: 10.1016/j.pediatrneurol.2019.07.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31570297" target="_blank">31570297</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29426806">Neonatal epilepsies: Clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornet MC,
|
||
Sands TT,
|
||
Cilio MR</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2018 Jun;23(3):204-212.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.siny.2018.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29426806" target="_blank">29426806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22pyridoxine-dependent%20epilepsy%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 (17)</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/33200442">Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Tseng LA,
|
||
Abdenur JE,
|
||
Ashmore C,
|
||
Boemer F,
|
||
Bok LA,
|
||
Boyer M,
|
||
Buhas D,
|
||
Clayton PT,
|
||
Das A,
|
||
Dekker H,
|
||
Evangeliou A,
|
||
Feillet F,
|
||
Footitt EJ,
|
||
Gospe SM Jr,
|
||
Hartmann H,
|
||
Kara M,
|
||
Kristensen E,
|
||
Lee J,
|
||
Lilje R,
|
||
Longo N,
|
||
Lunsing RJ,
|
||
Mills P,
|
||
Papadopoulou MT,
|
||
Pearl PL,
|
||
Piazzon F,
|
||
Plecko B,
|
||
Saini AG,
|
||
Santra S,
|
||
Sjarif DR,
|
||
Stockler-Ipsiroglu S,
|
||
Striano P,
|
||
Van Hove JLK,
|
||
Verhoeven-Duif NM,
|
||
Wijburg FA,
|
||
Zuberi SM,
|
||
van Karnebeek CDM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):178-192.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1002/jimd.12332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200442" target="_blank">33200442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30671974">Disorders affecting vitamin B(6) metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson MP,
|
||
Plecko B,
|
||
Mills PB,
|
||
Clayton PT</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2019 Jul;42(4):629-646.
|
||
Epub 2019 Mar 20
|
||
doi: 10.1002/jimd.12060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30671974" target="_blank">30671974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26893260">Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whyte MP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2016 Apr;12(4):233-46.
|
||
Epub 2016 Feb 19
|
||
doi: 10.1038/nrendo.2016.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26893260" target="_blank">26893260</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23622403">Pyridoxine and pyridoxalphosphate-dependent epilepsies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Plecko B</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2013;113:1811-7.
|
||
doi: 10.1016/B978-0-444-59565-2.00050-2.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23622403" target="_blank">23622403</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/14984687">Pediatric neurotransmitter diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearl PL,
|
||
Wallis DD,
|
||
Gibson KM</span><br />
|
||
<span class="medgenPMjournal">Curr Neurol Neurosci Rep</span>
|
||
2004 Mar;4(2):147-52.
|
||
doi: 10.1007/s11910-004-0029-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/14984687" target="_blank">14984687</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pyridoxine-dependent%20epilepsy%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 (55)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37776661">Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauhan A,
|
||
Tripathi S,
|
||
Kumar M</span><br />
|
||
<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Dec;149:53-55.
|
||
Epub 2023 Aug 26
|
||
doi: 10.1016/j.pediatrneurol.2023.08.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37776661" target="_blank">37776661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200442">Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Tseng LA,
|
||
Abdenur JE,
|
||
Ashmore C,
|
||
Boemer F,
|
||
Bok LA,
|
||
Boyer M,
|
||
Buhas D,
|
||
Clayton PT,
|
||
Das A,
|
||
Dekker H,
|
||
Evangeliou A,
|
||
Feillet F,
|
||
Footitt EJ,
|
||
Gospe SM Jr,
|
||
Hartmann H,
|
||
Kara M,
|
||
Kristensen E,
|
||
Lee J,
|
||
Lilje R,
|
||
Longo N,
|
||
Lunsing RJ,
|
||
Mills P,
|
||
Papadopoulou MT,
|
||
Pearl PL,
|
||
Piazzon F,
|
||
Plecko B,
|
||
Saini AG,
|
||
Santra S,
|
||
Sjarif DR,
|
||
Stockler-Ipsiroglu S,
|
||
Striano P,
|
||
Van Hove JLK,
|
||
Verhoeven-Duif NM,
|
||
Wijburg FA,
|
||
Zuberi SM,
|
||
van Karnebeek CDM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):178-192.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1002/jimd.12332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200442" target="_blank">33200442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30043187">The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Swanson MA,
|
||
Spector E,
|
||
Meeks NJL,
|
||
Kronquist KE,
|
||
Aslamy M,
|
||
Wempe MF,
|
||
van Karnebeek CDM,
|
||
Gospe SM Jr,
|
||
Aziz VG,
|
||
Tsai BP,
|
||
Gao H,
|
||
Nagy PL,
|
||
Hyland K,
|
||
van Dooren SJM,
|
||
Salomons GS,
|
||
Van Hove JLK</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2019 Mar;42(2):353-361.
|
||
Epub 2019 Feb 22
|
||
doi: 10.1002/jimd.12045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30043187" target="_blank">30043187</a><a href="/pmc/articles/PMC6345606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29426806">Neonatal epilepsies: Clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornet MC,
|
||
Sands TT,
|
||
Cilio MR</span><br />
|
||
<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
|
||
2018 Jun;23(3):204-212.
|
||
Epub 2018 Jan 31
|
||
doi: 10.1016/j.siny.2018.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29426806" target="_blank">29426806</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26893260">Hypophosphatasia - aetiology, nosology, pathogenesis, diagnosis and treatment.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Whyte MP</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Endocrinol</span>
|
||
2016 Apr;12(4):233-46.
|
||
Epub 2016 Feb 19
|
||
doi: 10.1038/nrendo.2016.14.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26893260" target="_blank">26893260</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pyridoxine-dependent%20epilepsy%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 (120)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37776661">Pyridoxine-Dependent Epilepsy With Poor Neurodevelopmental Outcome: Case Report.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chauhan A,
|
||
Tripathi S,
|
||
Kumar M</span><br />
|
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<span class="medgenPMjournal">Pediatr Neurol</span>
|
||
2023 Dec;149:53-55.
|
||
Epub 2023 Aug 26
|
||
doi: 10.1016/j.pediatrneurol.2023.08.032.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37776661" target="_blank">37776661</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36008152">Lysine Reduction and Cognitive Outcomes in Pyridoxine-Dependent Epilepsy: A New Approach to an Old Disease.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pearl PL,
|
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Kunz WS</span><br />
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<span class="medgenPMjournal">Neurology</span>
|
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2022 Dec 5;99(23):1025-1026.
|
||
doi: 10.1212/WNL.0000000000201270.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36008152" target="_blank">36008152</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200442">Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Tseng LA,
|
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Abdenur JE,
|
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Ashmore C,
|
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Boemer F,
|
||
Bok LA,
|
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Boyer M,
|
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Buhas D,
|
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Clayton PT,
|
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Das A,
|
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Dekker H,
|
||
Evangeliou A,
|
||
Feillet F,
|
||
Footitt EJ,
|
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Gospe SM Jr,
|
||
Hartmann H,
|
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Kara M,
|
||
Kristensen E,
|
||
Lee J,
|
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Lilje R,
|
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Longo N,
|
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Lunsing RJ,
|
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Mills P,
|
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Papadopoulou MT,
|
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Pearl PL,
|
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Piazzon F,
|
||
Plecko B,
|
||
Saini AG,
|
||
Santra S,
|
||
Sjarif DR,
|
||
Stockler-Ipsiroglu S,
|
||
Striano P,
|
||
Van Hove JLK,
|
||
Verhoeven-Duif NM,
|
||
Wijburg FA,
|
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Zuberi SM,
|
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van Karnebeek CDM</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
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2021 Jan;44(1):178-192.
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Epub 2020 Dec 1
|
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doi: 10.1002/jimd.12332.
|
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<span class="bold">PMID: </span><a href="/pubmed/33200442" target="_blank">33200442</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30671974">Disorders affecting vitamin B(6) metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wilson MP,
|
||
Plecko B,
|
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Mills PB,
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Clayton PT</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2019 Jul;42(4):629-646.
|
||
Epub 2019 Mar 20
|
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doi: 10.1002/jimd.12060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30671974" target="_blank">30671974</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29426806">Neonatal epilepsies: Clinical management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Cornet MC,
|
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Sands TT,
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Cilio MR</span><br />
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<span class="medgenPMjournal">Semin Fetal Neonatal Med</span>
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2018 Jun;23(3):204-212.
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||
Epub 2018 Jan 31
|
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doi: 10.1016/j.siny.2018.01.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29426806" target="_blank">29426806</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pyridoxine-dependent%20epilepsy%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 (97)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
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<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36731270">The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamali A,
|
||
Kristensen E,
|
||
Tangeraas T,
|
||
Arntsen V,
|
||
Sikiric A,
|
||
Kupliauskiene G,
|
||
Myren-Svelstad S,
|
||
Berland S,
|
||
Sejersted Y,
|
||
Gerstner T,
|
||
Hassel B,
|
||
Bindoff LA,
|
||
Brodtkorb E</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2023 Feb;190:107099.
|
||
Epub 2023 Jan 27
|
||
doi: 10.1016/j.eplepsyres.2023.107099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36731270" target="_blank">36731270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34298455">Is oxidative stress an overlooked player in pyridoxine-dependent epilepsy? A focused review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yazdani M,
|
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Elgstøen KBP</span><br />
|
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<span class="medgenPMjournal">Seizure</span>
|
||
2021 Oct;91:369-373.
|
||
Epub 2021 Jul 17
|
||
doi: 10.1016/j.seizure.2021.07.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34298455" target="_blank">34298455</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30043187">The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Swanson MA,
|
||
Spector E,
|
||
Meeks NJL,
|
||
Kronquist KE,
|
||
Aslamy M,
|
||
Wempe MF,
|
||
van Karnebeek CDM,
|
||
Gospe SM Jr,
|
||
Aziz VG,
|
||
Tsai BP,
|
||
Gao H,
|
||
Nagy PL,
|
||
Hyland K,
|
||
van Dooren SJM,
|
||
Salomons GS,
|
||
Van Hove JLK</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2019 Mar;42(2):353-361.
|
||
Epub 2019 Feb 22
|
||
doi: 10.1002/jimd.12045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30043187" target="_blank">30043187</a><a href="/pmc/articles/PMC6345606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21704546">Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Stockler S,
|
||
Plecko B,
|
||
Gospe SM Jr,
|
||
Coulter-Mackie M,
|
||
Connolly M,
|
||
van Karnebeek C,
|
||
Mercimek-Mahmutoglu S,
|
||
Hartmann H,
|
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Scharer G,
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Struijs E,
|
||
Tein I,
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Jakobs C,
|
||
Clayton P,
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||
Van Hove JL</span><br />
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||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
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2011 Sep-Oct;104(1-2):48-60.
|
||
Epub 2011 May 24
|
||
doi: 10.1016/j.ymgme.2011.05.014.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21704546" target="_blank">21704546</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pyridoxine-dependent%20epilepsy%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 (31)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/36731270">The spectrum of pyridoxine dependent epilepsy across the age span: A nationwide retrospective observational study.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Jamali A,
|
||
Kristensen E,
|
||
Tangeraas T,
|
||
Arntsen V,
|
||
Sikiric A,
|
||
Kupliauskiene G,
|
||
Myren-Svelstad S,
|
||
Berland S,
|
||
Sejersted Y,
|
||
Gerstner T,
|
||
Hassel B,
|
||
Bindoff LA,
|
||
Brodtkorb E</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2023 Feb;190:107099.
|
||
Epub 2023 Jan 27
|
||
doi: 10.1016/j.eplepsyres.2023.107099.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36731270" target="_blank">36731270</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/36008148">Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent Epilepsy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR,
|
||
Tseng LA,
|
||
Bok LA,
|
||
Hartmann H,
|
||
Footitt E,
|
||
Striano P,
|
||
Tabarki BM,
|
||
Lunsing RJ,
|
||
Stockler-Ipsiroglu S,
|
||
Gordon S,
|
||
Van Hove JLK,
|
||
Abdenur JE,
|
||
Boyer M,
|
||
Longo N,
|
||
Andrews A,
|
||
Janssen MCH,
|
||
van Wegberg A,
|
||
Prasad C,
|
||
Prasad AN,
|
||
Lamb MM,
|
||
Wijburg FA,
|
||
Gospe SM Jr,
|
||
van Karnebeek C;
|
||
International PDE Consortium</span><br />
|
||
<span class="medgenPMjournal">Neurology</span>
|
||
2022 Dec 5;99(23):e2627-e2636.
|
||
doi: 10.1212/WNL.0000000000201222.
|
||
<span class="bold">PMID: </span><a href="/pubmed/36008148" target="_blank">36008148</a><a href="/pmc/articles/PMC9754645" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30916789">Cerebral folate deficiency: Analytical tests and differential diagnosis.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Pope S,
|
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Artuch R,
|
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Heales S,
|
||
Rahman S</span><br />
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<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2019 Jul;42(4):655-672.
|
||
Epub 2019 May 2
|
||
doi: 10.1002/jimd.12092.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30916789" target="_blank">30916789</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30043187">The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Swanson MA,
|
||
Spector E,
|
||
Meeks NJL,
|
||
Kronquist KE,
|
||
Aslamy M,
|
||
Wempe MF,
|
||
van Karnebeek CDM,
|
||
Gospe SM Jr,
|
||
Aziz VG,
|
||
Tsai BP,
|
||
Gao H,
|
||
Nagy PL,
|
||
Hyland K,
|
||
van Dooren SJM,
|
||
Salomons GS,
|
||
Van Hove JLK</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2019 Mar;42(2):353-361.
|
||
Epub 2019 Feb 22
|
||
doi: 10.1002/jimd.12045.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30043187" target="_blank">30043187</a><a href="/pmc/articles/PMC6345606" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29547829">Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Haidar Z,
|
||
Jalkh N,
|
||
Corbani S,
|
||
Fawaz A,
|
||
Chouery E,
|
||
Mégarbané A</span><br />
|
||
<span class="medgenPMjournal">Seizure</span>
|
||
2018 Apr;57:32-33.
|
||
Epub 2018 Mar 10
|
||
doi: 10.1016/j.seizure.2018.03.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29547829" target="_blank">29547829</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pyridoxine-dependent%20epilepsy%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 (32)</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/38636407">Genotype and phenotype features and prognostic factors of neonatal-onset pyridoxine-dependent epilepsy: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Fang C,
|
||
Yang L,
|
||
Xiao F,
|
||
Yan K,
|
||
Zhou W</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2024 May;202:107363.
|
||
Epub 2024 Apr 17
|
||
doi: 10.1016/j.eplepsyres.2024.107363.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38636407" target="_blank">38636407</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33200442">Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
|
||
Tseng LA,
|
||
Abdenur JE,
|
||
Ashmore C,
|
||
Boemer F,
|
||
Bok LA,
|
||
Boyer M,
|
||
Buhas D,
|
||
Clayton PT,
|
||
Das A,
|
||
Dekker H,
|
||
Evangeliou A,
|
||
Feillet F,
|
||
Footitt EJ,
|
||
Gospe SM Jr,
|
||
Hartmann H,
|
||
Kara M,
|
||
Kristensen E,
|
||
Lee J,
|
||
Lilje R,
|
||
Longo N,
|
||
Lunsing RJ,
|
||
Mills P,
|
||
Papadopoulou MT,
|
||
Pearl PL,
|
||
Piazzon F,
|
||
Plecko B,
|
||
Saini AG,
|
||
Santra S,
|
||
Sjarif DR,
|
||
Stockler-Ipsiroglu S,
|
||
Striano P,
|
||
Van Hove JLK,
|
||
Verhoeven-Duif NM,
|
||
Wijburg FA,
|
||
Zuberi SM,
|
||
van Karnebeek CDM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jan;44(1):178-192.
|
||
Epub 2020 Dec 1
|
||
doi: 10.1002/jimd.12332.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33200442" target="_blank">33200442</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Pyridoxine-dependent%20epilepsy%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 (2)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (4)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&test_type=Research" target="_blank">Research (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (59)</a></li>
|
||
<li><a href="/gtr/tests?term=C1849508%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (10)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1849508%5bDISCUI%5d" target="_blank">See all (71)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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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=266100" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=3006" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Pyridoxine-dependent%20epilepsy" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
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<div class="portlet mgSection" id="ID_121">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></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=(%22pyridoxine-dependent%20epilepsy%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><li><a target="_blank" href="/books/?term=((%22clinical%20guidelines%22%5BResource%20Type%5D)%20OR%20%22practice%20guideline%22%5BPublication%20Type%5D)%20AND%20(%22Pyridoxine-dependent%20epilepsy%22)">Bookshelf</a><div class="help-popup">See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul></div>
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<div class="portlet mgSection" id="ID_115">
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<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=107323" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=501[geneid]" target="_blank">View ALDH7A1 variations in ClinVar</a></li><li><a href="/nuccore/323363001" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=266100" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
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<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Pyridoxine-dependent+epilepsy/6116" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/epilepsy_early_onset_4_vitamin_b6_dependent" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Pyridoxine-dependent%20epilepsy" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/9298/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
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||
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<h3>Reviews</h3>
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<a href="/pubmed/20301659" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
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<a href="/pubmed/clinical?term=Pyridoxine-dependent%20epilepsy" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
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<a href="/pubmed?term=Pyridoxine-dependent%20epilepsy%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
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<h3>Related information</h3>
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<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=340341" ref="log$=recordlinks">ClinVar</a>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1849508[DISCUI]&test_type=Clinical" ref="log$=recordlinks">GTR(Clinical)</a>
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<div class="brieflinkpop offscreen_noflow">Clinical tests in GTR</div>
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<a class="brieflinkpopperctrl" href="/gtr/tests?term=C1849508[DISCUI]&test_type=Research" ref="log$=recordlinks">GTR(Research)</a>
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_genereviews&from_uid=340341" ref="log$=recordlinks">PubMed (GeneReviews)</a>
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<div class="brieflinkpop offscreen_noflow">GeneReviews in PubMed</div>
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<li class="brieflinkpopper">
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<a class="brieflinkpopperctrl" href="/pubmed?LinkName=medgen_pubmed_omim&from_uid=340341" ref="log$=recordlinks">PubMed (OMIM)</a>
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<div class="brieflinkpop offscreen_noflow">Related literature resources in PubMed</div>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=1" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b32b15b832ebc81119a">Pyridoxine-dependent epilepsy</a>
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<a class="htb ralinkpopperctrl" ref="log$=activity&linkpos=3" href="/portal/utils/pageresolver.fcgi?recordid=67ca7b2fb15b832ebc8102e8">C1864723[trait identifier] AND "Labcorp Genetics (formerly Invita... <span class="number">(279)</span></a>
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