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Thieme E-Journals - Journal of Pediatric Epilepsy / Abstract
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// custom KV example window._adexc.push([ '/506/3014/', 'ut', '_kv', { 'IpLoggedIn':'false', 'LoggedIn':'false', 'isFulltext':'false', 'JournalDoi': '00029025', } ]); var axd = document.createElement('script'); axd.type = 'text/javascript'; axd.async = 1; axd.src = "https://dmp.theadex.com/d/506/3014/s/adex.js"; var s = document.getElementsByTagName('script')[0]; s.parentNode.insertBefore(axd, s); })(); </script> <!-- TC-1735 MathML --> <script src="https://polyfill.io/v3/polyfill.min.js?features=es6"></script> <script type="text/javascript" id="MathJax-script" async src="https://cdn.jsdelivr.net/npm/mathjax@3/es5/mml-chtml.js"></script> <meta name="page" content="abstract"/> <meta name="layout" content="main"/> <meta name="prism:publicationName" content="Journal of Pediatric Epilepsy" /> <meta name="prism:issn" content="2146-457X" /> <meta name="prism:eissn" content="2146-4588" /> <meta name="prism:distributor" content="Georg Thieme Verlag KG" /> <meta name="prism:copyright" content="Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany" /> <meta name="prism:doi" content="10.1055/s-0044-1787145" /> <meta name="prism:academicField" content="Case Report" /> <meta name="prism:person" content="Ratnapriya Chowdhry" /> <meta name="prism:person" content="Santosh Kondekar" /> <meta name="prism:person" content="Gulrej Shaikh" /> <meta name="prism:copyrightYear" content="2024" /> <meta name="prism:copyrighEntity" content="Georg Thieme Verlag KG" /> <meta name="prism:publicationDate" content="2024/05/30" /> <meta name="prism:coverDate" content="2024/09" /> <meta name="prism:volume" content="13" /> <meta name="prism:issueIdentifier" content="03" /> <meta name="prism:startingPage" content="063" /> <meta name="prism:endingPage" content="064" /> <meta name="prism:url" content="http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0044-1787145" /> <meta name="citation_language" content="en" /> <meta name="citation_journal_title" content="Journal of Pediatric Epilepsy" /> <meta name="citation_issn" content="2146-457X" /> <meta name="citation_issn" content="2146-4588" /> <meta name="citation_publisher" content="Georg Thieme Verlag KG" /> <meta name="citation_doi" content="10.1055/s-0044-1787145" /> <meta name="citation_title" content="Amish Infantile Epilepsy in an Indian Child" /> <meta name="citation_author" content="Ratnapriya Chowdhry" /> <meta name="citation_author_institution" content="Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India" /> <meta name="citation_author_email" content="rchowdhry2794@gmail.com" /> <meta name="citation_author_orcid" content="0000-0001-6000-8117" /> <meta name="citation_author" content="Santosh Kondekar" /> <meta name="citation_author_institution" content="Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India" /> <meta name="citation_author" content="Gulrej Shaikh" /> <meta name="citation_author_institution" content="Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India" /> <meta name="citation_online_date" content="2024/05/30" /> <meta name="citation_publication_date" content="2024/09" /> <meta name="citation_volume" content="13" /> <meta name="citation_issue" content="03" /> <meta name="citation_firstpage" content="063" /> <meta name="citation_lastpage" content="064" /> <meta name="citation_pdf_url" content="http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0044-1787145.pdf" /> <meta name="citation_fulltext_html_url" content="http://www.thieme-connect.de/products/ejournals/html/10.1055/s-0044-1787145" /> <meta name="citation_xml_url" content="http://www.thieme-connect.de/products/ejournals/xml/10.1055/s-0044-1787145.xml" format_fulltext="jats1.3" /> <meta name="citation_abstract_html_url" content="http://www.thieme-connect.de/DOI/DOI?10.1055/s-0044-1787145" /> <meta name="citation_license" content="[null, null]" /> <meta name="citation_abstract" content="<p>Consanguineous marriages in India continue to give rise to a wide spectrum of recessively inherited disorders that require a broader base of knowledge. A 2-year-old boy presented with global development delay, persistent vomiting, drug refractory seizures, deafness, and central hypotonia. He had profound bilateral hearing loss, barium swallow showed severe reflux but magnetic resonance imaging brain was normal, leading to a diagnostic dilemma. A normal electromyogram with nerve conduction velocity ruled out disorders of muscle and nerve. Whole-exome sequencing showed salt and pepper development regression syndrome but phenotypically, he did not have the classic skin changes. He has shown mild improvement in cognition, mobility, and weight gain with citicoline, antireflux medications, antiseizure medications, and a protein diet. Accurate diagnosis based on cohort of symptoms and appropriate early intervention can help improve the quality of life in such children.</p> " /> <meta name="citation_reference" content="citation_author=M Slatkin; citation_publication_date=2004; citation_title=A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases; citation_firstpage=282; citation_lastpage=293; citation_issue=02; citation_journal_title=Am J Hum Genet; citation_volume=75; " /> <meta name="citation_reference" content="citation_author=K-I Inamori; citation_author=J-I Inokuchi; citation_publication_date=2022; citation_title=Ganglioside GM3 synthase deficiency in mouse models and human patients; citation_firstpage=5368; citation_issue=10; citation_journal_title=Int J Mol Sci; citation_volume=23; " /> <meta name="citation_reference" content="citation_author=L Boccuto; citation_author=K Aoki; citation_author=H Flanagan-Steet; citation_publication_date=2014; citation_title=A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation; citation_firstpage=418; citation_lastpage=433; citation_issue=02; citation_journal_title=Hum Mol Genet; citation_volume=23; " /> <meta name="citation_reference" content="citation_author=H Wang; citation_author=A Bright; citation_author=B Xin; citation_author=J R Bockoven; citation_author=A S Paller; citation_publication_date=2013; citation_title=Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency; citation_firstpage=875; citation_lastpage=879; citation_issue=04; citation_journal_title=Am J Med Genet A; citation_volume=161A; " /> <meta name="citation_reference" content="citation_author=M Yoshikawa; citation_author=S Go; citation_author=S Suzuki; citation_publication_date=2015; citation_title=Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells; citation_firstpage=2796; citation_lastpage=2807; citation_issue=10; citation_journal_title=Hum Mol Genet; citation_volume=24; " /> <meta name="citation_reference" content="citation_author=L E Bowser; citation_author=M Young; citation_author=O K Wenger; citation_publication_date=2019; citation_title=Recessive GM3 synthase deficiency: natural history, biochemistry, and therapeutic frontier; citation_firstpage=475; citation_lastpage=488; citation_issue=04; citation_journal_title=Mol Genet Metab; citation_volume=126; " /> <meta name="citation_reference" content="citation_author=V Cruz; citation_author=B Xin; citation_author=H Wang; citation_publication_date=1993; citation_title=GM3 Synthase Deficiency; citation_inbook_title=M P Adam, J Feldman, G M Mirzaa, R A Pagon, S E Wallace, L JH Bean, K W Gripp, A Amemiya: GeneReviews® [Internet]; citation_publisher=University of Washington; " /> <meta name="citation_reference" content="citation_author=H Yang; citation_author=R H Brown; citation_author=D Wang; citation_author=K A Strauss; citation_author=G Gao; citation_publication_date=2023; citation_title=Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery; citation_firstpage=e168688; citation_issue=09; citation_journal_title=JCI Insight; citation_volume=8; " /> <meta name="dc:medium" content="Journal of Pediatric Epilepsy" /> <meta name="dc:language" content="en" /> <meta name="dc:rights" content="Georg Thieme Verlag KG Rüdigerstraße 14, 70469 Stuttgart, Germany" /> <meta name="dc:publisher" content="Georg Thieme Verlag KG" /> <meta name="dc:identifier" content="10.1055/s-0044-1787145" /> <meta name="dc:subject" content="Case Report" /> <meta name="dc:title" content="Amish Infantile Epilepsy in an Indian Child" /> <meta name="dc:creator" content="Ratnapriya Chowdhry" /> <meta name="dc:creator" content="Santosh Kondekar" /> <meta name="dc:creator" content="Gulrej Shaikh" /> <meta name="dc:rightsHolder" content="Georg Thieme Verlag KG" /> <meta name="dc:date" content="2024/05/30" /> <meta name="dcterms:issued" content="2024/09" /> <meta name="dcterms:abstract" content="Consanguineous marriages in India continue to give rise to a wide spectrum of recessively inherited disorders that require a broader base of knowledge. A 2-year-old boy presented with global development delay, persistent vomiting, drug refractory seizures, deafness, and central hypotonia. He had profound bilateral hearing loss, barium swallow showed severe reflux but magnetic resonance imaging brain was normal, leading to a diagnostic dilemma. A normal electromyogram with nerve conduction velocity ruled out disorders of muscle and nerve. Whole-exome sequencing showed salt and pepper development regression syndrome but phenotypically, he did not have the classic skin changes. He has shown mild improvement in cognition, mobility, and weight gain with citicoline, antireflux medications, antiseizure medications, and a protein diet. Accurate diagnosis based on cohort of symptoms and appropriate early intervention can help improve the quality of life in such children. 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true, cache: false, url : url, success : function(data) { } }); } </script> </div> <!-- end general/_tocIcons.gsp --> <!-- start abstractText --> <div class="articleHeader"> <div xmlns:m="http://www.w3.org/1998/Math/MathML" xmlns:exsl="http://exslt.org/common" class="doi">Journal of Pediatric Epilepsy 2024; 13(03): 063-064<br>DOI: 10.1055/s-0044-1787145</div> <div class="articleType"> <div>Case Report</div> </div> <h1>Amish Infantile Epilepsy in an Indian Child</h1> <span id="authorlist"><span class="author"> <div class="name"> <a class="orchid-id" target="_blank" href="https://orcid.org/0000-0001-6000-8117">Ratnapriya Chowdhry</a>  </div> <div class="affiliation"> <sup>1   </sup>Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India</div> <div class="affiliation"></div> <div class="authorseparator">, </div> </span><span class="author"> <div class="name">Santosh Kondekar</div> <div class="affiliation"> <sup>1   </sup>Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India</div> <div class="authorseparator">, </div> </span><span class="author"> <div class="name">Gulrej Shaikh</div> <div class="affiliation"> <sup>1   </sup>Department of Paediatrics, Topiwala National Medical College (TNMC) and Bai Yamunabai Laxman Nair Charitable Hospital, Mumbai, Maharashtra, India</div> </span><a style="text-decoration: none;" class="toggle-affiliation-infos" href="#">› Author Affiliations<span class="verbum"></span></a></span> <div class="toggleMenu articleToggleMenu"> <a style="text-decoration: none;" href="#info"> › Further Information</a> <div class="platformLink"> <span class="label"><a style="color: #000000; text-decoration: none" class="virtualLink">Also available at</a></span><a target="_blank" class="btnPlatformLink" href="https://eref.thieme.de/10.1055/s-0044-1787145"><img 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style="display: none" href="/products/ejournals/buyDocument/10.1055/s-0044-1787145" class="gotoLink" id="sasLink">Buy Article</a> <a onClick="RightslinkPopUp("2146-4588", "Amish Infantile Epilepsy in an Indian Child", "05/30/2024", "Ratnapriya Chowdhry, Santosh Kondekar, Gulrej Shaikh", "", "10.1055/s-0044-1787145", "063", "064", "13", "03", "")" class="gotoLink" href="javascript:;">Permissions and Reprints</a> </div> <figure style="margin-left: 30px" class="floatRight"> <a data-doi="10.1055/s-0044-1787145" data-caption="" data-id="10-1055-s-0044-1787145_2400007-1.jpg" data-cssClass="previewOverlay" href="https://www.thieme-connect.de/media/10.1055-s-00029025/202403/lookinside/10-1055-s-0044-1787145_2400007-1.jpg" class="zoomFunction alignLeft"><img src="https://www.thieme-connect.de/media/10.1055-s-00029025/202403/lookinside/thumbnails/10-1055-s-0044-1787145_2400007-1.jpg"></a> <figcaption></figcaption> </figure> <a name="N10ACB"></a> <h3>Abstract</h3> <p>Consanguineous marriages in India continue to give rise to a wide spectrum of recessively inherited disorders that require a broader base of knowledge. A 2-year-old boy presented with global development delay, persistent vomiting, drug refractory seizures, deafness, and central hypotonia. He had profound bilateral hearing loss, barium swallow showed severe reflux but magnetic resonance imaging brain was normal, leading to a diagnostic dilemma. A normal electromyogram with nerve conduction velocity ruled out disorders of muscle and nerve. Whole-exome sequencing showed salt and pepper development regression syndrome but phenotypically, he did not have the classic skin changes. He has shown mild improvement in cognition, mobility, and weight gain with citicoline, antireflux medications, antiseizure medications, and a protein diet. Accurate diagnosis based on cohort of symptoms and appropriate early intervention can help improve the quality of life in such children.</p> <i></i><i></i> <div class="articleKeywords"> <a name="N10AD4"></a> <h3>Keywords</h3> consanguinity - intractable epilepsy - vomiting - deafness </div> <br> <br> <a name="info"></a> <h3>Publication History</h3> <p>Received: 19 March 2024<br> <br>Accepted: 25 April 2024<br> <br>Article published online:<br>30 May 2024<br> </p> <p>© 2024. Thieme. All rights reserved.</p> <p>Georg Thieme Verlag KG<br>Rüdigerstraße 14, 70469 Stuttgart, Germany</p> <div id="trendmd-suggestions"></div> </section> <section id="htmlfulltext"> </section> <section id="references"> <a name=""></a> <ul class="literaturliste"> <a name="N10B4E"></a> <li> <h3>References</h3> </li> <li> <a name="JR2400007-1"></a><strong>1</strong> Slatkin M. A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases. Am J Hum Genet 2004; 75 (02) 282-293 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-1/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.1086/423146">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/15208782">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=A population-genetic test of founder effects and implications for Ashkenazi Jewish diseases">Google Scholar</a> </div> </div> </li> <li> <a name="JR2400007-2"></a><strong>2</strong> Inamori K-I, Inokuchi J-I. Ganglioside GM3 synthase deficiency in mouse models and human patients. Int J Mol Sci 2022; 23 (10) 5368 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-2/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.3390/ijms23105368">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/35628171">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=Ganglioside GM3 synthase deficiency in mouse models and human patients">Google Scholar</a> </div> </div> </li> <li> <a name="JR2400007-3"></a><strong>3</strong> Boccuto L, Aoki K, Flanagan-Steet H. et al. A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation. Hum Mol Genet 2014; 23 (02) 418-433 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-3/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.1093/hmg/ddt434">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/24026681">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation">Google Scholar</a> </div> </div> </li> <li> <a name="JR2400007-4"></a><strong>4</strong> Wang H, Bright A, Xin B, Bockoven JR, Paller AS. Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency. Am J Med Genet A 2013; 161A (04) 875-879 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-4/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.1002/ajmg.a.35826">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/23436467">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=Cutaneous dyspigmentation in patients with ganglioside GM3 synthase deficiency">Google Scholar</a> </div> </div> </li> <li> <a name="JR2400007-5"></a><strong>5</strong> Yoshikawa M, Go S, Suzuki S. et al. Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells. Hum Mol Genet 2015; 24 (10) 2796-2807 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-5/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.1093/hmg/ddv041">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/25652401">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cells">Google Scholar</a> </div> </div> </li> <li> <a name="JR2400007-6"></a><strong>6</strong> Bowser LE, Young M, Wenger OK. et al. Recessive GM3 synthase deficiency: natural history, biochemistry, and therapeutic frontier. Mol Genet Metab 2019; 126 (04) 475-488 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-6/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.1016/j.ymgme.2019.01.013">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/30691927">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=Recessive GM3 synthase deficiency: natural history, biochemistry, and therapeutic frontier">Google Scholar</a> </div> </div> </li> <li> <a name="BR2400007-7"></a><strong>7</strong> Cruz V, Xin B, Wang H. GM3 Synthase Deficiency. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A. eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/BR2400007-7/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://scholar.google.com/scholar_lookup?title=GM3 Synthase Deficiency">Google Scholar</a> </div> </div> </li> <li> <a name="JR2400007-8"></a><strong>8</strong> Yang H, Brown Jr RH, Wang D, Strauss KA, Gao G. Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery. JCI Insight 2023; 8 (09) e168688 <div class="referenceLinks"> <a href="/products/ejournals/ris/10.1055/s-0044-1787145/id/JR2400007-8/BIB"> <div class="referenceLinkRis"></div> </a> <div class="referenceLinkText"> <a target="linkout" href="https://doi.org/10.1172/jci.insight.168688">Crossref</a><a target="linkout" href="https://pubmed.ncbi.nlm.nih.gov/37014712">PubMed</a><a target="linkout" href="https://scholar.google.com/scholar_lookup?title=Rescue of GM3 synthase deficiency by spatially controlled, rAAV-mediated ST3GAL5 delivery">Google Scholar</a> </div> </div> </li> </ul> <br> </section> <section id="images"> </section> <section id="supmat"> <ul class="tabBar borderBottom" id="supmatTabs"></ul> <div class="tabContentContainer"></div> </section> </div> <!-- end abstractText --> </article> <div class="metrics-container-main"> <div class="metrics-container-left"> <div class="metrics-container-cell"> <div class="metrics-altmetrics"></div> </div> </div> <div class="metrics-container-right"> <div class="metrics-container-cell"> <!--TC-1960--> <div id="crossrefcites" class="crossrefcites" data-doi="10.1055/s-0044-1787145"/></div> </div> </div> </div> <!-- start general/_adBoxPanel.gsp --> <div id="adSidebarOverBottom"> <script type="text/javascript"> window.TCFUtility.writeScript([ 'https://adfarm1.adition.com/js?wp_id=4863507&gdpr=${GDPR}&gdpr_consent=${GDPR_CONSENT_39}&prf[DOI]=10.1055-s-00029025&prf[UserLogin]=false&prf[IPLogin]=false&prf[MASTERKEY]=10.1055-s-00029025, false, false&prf[HWG]=false' ]); 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