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<!--
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UID=1842470
|
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ConceptID=C5680897
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Mitochondrial disease with epilepsy</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1842470</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.">C5680897</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Orphanet:</td>
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<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=225700">ORPHA225700</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_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet unavailable" title="ClinVar">V</span></span><span class="TLline">Mitochondrial disease with epilepsy</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="matched_ds">Mitochondrial disease with epilepsy</span><ul><li><span class="TLline"><a href="/medgen/87458" ref="tree=MeSH" title="MedGen record for Fumarase deficiency">Fumarase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/9618" ref="tree=MeSH" title="MedGen record for Kearns-Sayre syndrome">Kearns-Sayre syndrome</a></span></li><li><span class="TLline"><a href="/medgen/482517" ref="tree=MeSH" title="MedGen record for Lipoic acid synthetase deficiency">Lipoic acid synthetase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/375855" ref="tree=MeSH" title="MedGen record for MEHMO syndrome">MEHMO syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/374101" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency">Mitochondrial complex I deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1648371" ref="tree=MeSH" title="MedGen record for Mitochondrial complex 1 deficiency, mitochondrial type 1">Mitochondrial complex 1 deficiency, mitochondrial type 1</a></span></li><li><span class="TLline"><a href="/medgen/940569" ref="tree=MeSH" title="MedGen record for Mitochondrial complex I deficiency, nuclear type 1">Mitochondrial complex I deficiency, nuclear type 1</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/167876" ref="tree=MeSH" title="MedGen record for Mitochondrial neurogastrointestinal encephalomyopathy">Mitochondrial neurogastrointestinal encephalomyopathy</a></span></li><li><span class="TLline"><a href="/medgen/231285" ref="tree=MeSH" title="MedGen record for NARP syndrome">NARP syndrome</a></span></li><li><span class="TLline"><a href="/medgen/414553" ref="tree=MeSH" title="MedGen record for Oxoglutaricaciduria">Oxoglutaricaciduria</a></span></li><li><span class="TLline"><a href="/medgen/60012" ref="tree=MeSH" title="MedGen record for Progressive sclerosing poliodystrophy">Progressive sclerosing poliodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/326486" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-alpha deficiency">Pyruvate dehydrogenase E1-alpha deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481471" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-beta deficiency">Pyruvate dehydrogenase E1-beta deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343386" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E2 deficiency">Pyruvate dehydrogenase E2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1805500" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3 deficiency">Pyruvate dehydrogenase E3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343383" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3-binding protein deficiency">Pyruvate dehydrogenase E3-binding protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/332448" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase phosphatase deficiency">Pyruvate dehydrogenase phosphatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/375302" ref="tree=MeSH" title="MedGen record for Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis">Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis</a></span></li></ul></li></ul></div></div></div></div>
|
||
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/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/30266218">Epilepsy management in mitochondrial diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Primiano G,
|
||
Vollono C,
|
||
Dono F,
|
||
Servidei S</span><br />
|
||
<span class="medgenPMjournal">Epilepsy Res</span>
|
||
2018 Nov;147:108.
|
||
Epub 2018 Sep 25
|
||
doi: 10.1016/j.eplepsyres.2018.09.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30266218" target="_blank">30266218</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(mitochondrial%20disease%20with%20epilepsy)%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 (55)</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/38838312">Genome Sequencing for Diagnosing Rare Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Wojcik MH,
|
||
Lemire G,
|
||
Berger E,
|
||
Zaki MS,
|
||
Wissmann M,
|
||
Win W,
|
||
White SM,
|
||
Weisburd B,
|
||
Wieczorek D,
|
||
Waddell LB,
|
||
Verboon JM,
|
||
VanNoy GE,
|
||
Töpf A,
|
||
Tan TY,
|
||
Syrbe S,
|
||
Strehlow V,
|
||
Straub V,
|
||
Stenton SL,
|
||
Snow H,
|
||
Singer-Berk M,
|
||
Silver J,
|
||
Shril S,
|
||
Seaby EG,
|
||
Schneider R,
|
||
Sankaran VG,
|
||
Sanchis-Juan A,
|
||
Russell KA,
|
||
Reinson K,
|
||
Ravenscroft G,
|
||
Radtke M,
|
||
Popp D,
|
||
Polster T,
|
||
Platzer K,
|
||
Pierce EA,
|
||
Place EM,
|
||
Pajusalu S,
|
||
Pais L,
|
||
Õunap K,
|
||
Osei-Owusu I,
|
||
Opperman H,
|
||
Okur V,
|
||
Oja KT,
|
||
O'Leary M,
|
||
O'Heir E,
|
||
Morel CF,
|
||
Merkenschlager A,
|
||
Marchant RG,
|
||
Mangilog BE,
|
||
Madden JA,
|
||
MacArthur D,
|
||
Lovgren A,
|
||
Lerner-Ellis JP,
|
||
Lin J,
|
||
Laing N,
|
||
Hildebrandt F,
|
||
Hentschel J,
|
||
Groopman E,
|
||
Goodrich J,
|
||
Gleeson JG,
|
||
Ghaoui R,
|
||
Genetti CA,
|
||
Gburek-Augustat J,
|
||
Gazda HT,
|
||
Ganesh VS,
|
||
Ganapathi M,
|
||
Gallacher L,
|
||
Fu JM,
|
||
Evangelista E,
|
||
England E,
|
||
Donkervoort S,
|
||
DiTroia S,
|
||
Cooper ST,
|
||
Chung WK,
|
||
Christodoulou J,
|
||
Chao KR,
|
||
Cato LD,
|
||
Bujakowska KM,
|
||
Bryen SJ,
|
||
Brand H,
|
||
Bönnemann CG,
|
||
Beggs AH,
|
||
Baxter SM,
|
||
Bartolomaeus T,
|
||
Agrawal PB,
|
||
Talkowski M,
|
||
Austin-Tse C,
|
||
Abou Jamra R,
|
||
Rehm HL,
|
||
O'Donnell-Luria A</span><br />
|
||
<span class="medgenPMjournal">N Engl J Med</span>
|
||
2024 Jun 6;390(21):1985-1997.
|
||
doi: 10.1056/NEJMoa2314761.
|
||
<span class="bold">PMID: </span><a href="/pubmed/38838312" target="_blank">38838312</a><a href="/pmc/articles/PMC11350637" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34217336">Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zweers H,
|
||
van Wegberg AMJ,
|
||
Janssen MCH,
|
||
Wortmann SB</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jul 3;16(1):295.
|
||
doi: 10.1186/s13023-021-01927-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34217336" target="_blank">34217336</a><a href="/pmc/articles/PMC8254320" target="_blank" class="PubMedFree">Free PMC Article</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/31829048">An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ashrafi MR,
|
||
Amanat M,
|
||
Garshasbi M,
|
||
Kameli R,
|
||
Nilipour Y,
|
||
Heidari M,
|
||
Rezaei Z,
|
||
Tavasoli AR</span><br />
|
||
<span class="medgenPMjournal">Expert Rev Neurother</span>
|
||
2020 Jan;20(1):65-84.
|
||
Epub 2019 Dec 12
|
||
doi: 10.1080/14737175.2020.1699060.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31829048" target="_blank">31829048</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20disease%20with%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 (341)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37562887">Mitochondrial encephalomyopathy.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ng YS,
|
||
McFarland R</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2023;195:563-585.
|
||
doi: 10.1016/B978-0-323-98818-6.00025-X.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37562887" target="_blank">37562887</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34217336">Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zweers H,
|
||
van Wegberg AMJ,
|
||
Janssen MCH,
|
||
Wortmann SB</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jul 3;16(1):295.
|
||
doi: 10.1186/s13023-021-01927-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34217336" target="_blank">34217336</a><a href="/pmc/articles/PMC8254320" target="_blank" class="PubMedFree">Free PMC Article</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/30451971">POLG-related disorders and their neurological manifestations.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Rahman S,
|
||
Copeland WC</span><br />
|
||
<span class="medgenPMjournal">Nat Rev Neurol</span>
|
||
2019 Jan;15(1):40-52.
|
||
doi: 10.1038/s41582-018-0101-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30451971" target="_blank">30451971</a><a href="/pmc/articles/PMC8796686" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24606795">Mitochondrial biogenesis: pharmacological approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valero T</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2014;20(35):5507-9.
|
||
doi: 10.2174/138161282035140911142118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24606795" target="_blank">24606795</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20disease%20with%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 (649)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hassan A</span><br />
|
||
<span class="medgenPMjournal">Tremor Other Hyperkinet Mov (N Y)</span>
|
||
2023;13:9.
|
||
Epub 2023 Mar 28
|
||
doi: 10.5334/tohm.747.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34217336">Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zweers H,
|
||
van Wegberg AMJ,
|
||
Janssen MCH,
|
||
Wortmann SB</span><br />
|
||
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
|
||
2021 Jul 3;16(1):295.
|
||
doi: 10.1186/s13023-021-01927-w.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34217336" target="_blank">34217336</a><a href="/pmc/articles/PMC8254320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26095523">MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">El-Hattab AW,
|
||
Adesina AM,
|
||
Jones J,
|
||
Scaglia F</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Sep-Oct;116(1-2):4-12.
|
||
Epub 2015 Jun 15
|
||
doi: 10.1016/j.ymgme.2015.06.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26095523" target="_blank">26095523</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25957927">Clinical trials of N-acetylcysteine in psychiatry and neurology: A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Deepmala,
|
||
Slattery J,
|
||
Kumar N,
|
||
Delhey L,
|
||
Berk M,
|
||
Dean O,
|
||
Spielholz C,
|
||
Frye R</span><br />
|
||
<span class="medgenPMjournal">Neurosci Biobehav Rev</span>
|
||
2015 Aug;55:294-321.
|
||
Epub 2015 May 6
|
||
doi: 10.1016/j.neubiorev.2015.04.015.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25957927" target="_blank">25957927</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24606795">Mitochondrial biogenesis: pharmacological approaches.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Valero T</span><br />
|
||
<span class="medgenPMjournal">Curr Pharm Des</span>
|
||
2014;20(35):5507-9.
|
||
doi: 10.2174/138161282035140911142118.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24606795" target="_blank">24606795</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20disease%20with%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 (196)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37508574">Liquid Biopsy in Neurological Diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Malhotra S,
|
||
Miras MCM,
|
||
Pappolla A,
|
||
Montalban X,
|
||
Comabella M</span><br />
|
||
<span class="medgenPMjournal">Cells</span>
|
||
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Ramos-Rivera GA,
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Wojcik MH,
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Schatz UA,
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Pölsler L,
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Milenkovic I,
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Laccone F,
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Pilshofer V,
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Colombo R,
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Patzer S,
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Iuso A,
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Vera J,
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Henderson LB,
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Vetro A,
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Guerrini R,
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Borggraefe I,
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20disease%20with%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 (308)</a></div></div>
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<div class="nl"><a target="_blank" href="/pubmed/37008993">Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.</a></div>
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<span class="bold">PMID: </span><a href="/pubmed/37008993" target="_blank">37008993</a><a href="/pmc/articles/PMC10064912" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/36809201">Neuropathy, Ataxia, and Retinitis Pigmentosa Syndrome.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Finsterer J</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/36809201" target="_blank">36809201</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/34217336">Ketogenic diet for mitochondrial disease: a systematic review on efficacy and safety.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Zweers H,
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van Wegberg AMJ,
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Janssen MCH,
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Wortmann SB</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2021 Jul 3;16(1):295.
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doi: 10.1186/s13023-021-01927-w.
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<span class="bold">PMID: </span><a href="/pubmed/34217336" target="_blank">34217336</a><a href="/pmc/articles/PMC8254320" target="_blank" class="PubMedFree">Free PMC Article</a></div>
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<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>
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<div class="portlet_content ln"><span class="medgenPMauthor">Coughlin CR 2nd,
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Tseng LA,
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Lunsing RJ,
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Striano P,
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Van Hove JLK,
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<span class="bold">PMID: </span><a href="/pubmed/33200442" target="_blank">33200442</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/25957927">Clinical trials of N-acetylcysteine in psychiatry and neurology: A systematic review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Deepmala,
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Slattery J,
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Kumar N,
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<span class="bold">PMID: </span><a href="/pubmed/25957927" target="_blank">25957927</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Mitochondrial%20disease%20with%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 (13)</a></div></div>
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<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C5680897%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (1)</a></li>
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