A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia

A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refracto...

Full description

Saved in:
Bibliographic Details
Published in:Journal of pediatric neurosciences 2018-07, Vol.13 (3), p.340-342
Main Authors: Direk, Meltem, Komur, Mustafa, Ozgur, Anıl, Okuyaz, Cetin
Format: Article
Language:English
Subjects:
Case Report
Case studies
Epilepsy
Gene mutation
Genetic aspects
Mutation
NMR
Nuclear magnetic resonance
Patients
Seizures (Medicine)
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by
cites
container_end_page 342
container_issue 3
container_start_page 340
container_title Journal of pediatric neurosciences
container_volume 13
creator Direk, Meltem
Komur, Mustafa
Ozgur, Anıl
Okuyaz, Cetin
description A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy. The filamin A gene mutation was negative. Posterior periventricular nodular heterotopia is a rarer and a more different entity from classical periventricular nodular heterotopia with no gender difference and negative filamin A gene mutation. There is a limited number of case studies on posterior periventricular heterotopia. Therefore, this patient was presented to emphasize that epilepsy may be more refractory to treatment, and central congenital abnormalities including posterior fossa abnormalities are more frequent in patients with posterior periventricular nodular heterotopia.
doi_str_mv 10.4103/jpn.JPN_178_17
format article
fullrecord <record><control><sourceid>gale_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6144599</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A553739239</galeid><sourcerecordid>A553739239</sourcerecordid><originalsourceid>FETCH-LOGICAL-c518o-66864374c8c71aec01ebaede38b10b7bc1505f88b5fc4d8cb651d13f851e70673</originalsourceid><addsrcrecordid>eNp9kk1v1DAQhiMEoqVw5Ygicc5ix3bscEBaVYUWVbBCcB45zmTrbdYOdtLV_nucflKpIMsaS37m9XjmzbK3lCw4JezDZnCLr6tvQKVK-1l2SOtaFazm6nk6KyoLKrk4yF7FuCGEV7zkL7MDRkpJuSSH2Y9lHnTA3OgpYu67PGAXtBl92Oc42B6HuP-Yr3wcMVgf8iGFK3RjsGbqdcidb6_jBSbAj36w-nX2otN9xDe38Sj79fnk5_Fpcf79y9nx8rwwgipfVJWqOJPcKCOpRkMoNhpbZKqhpJGNoYKITqlGdIa3yjSVoC1lnRIUJakkO8o-3egOU7PF1sxV6R6GYLc67MFrC49vnL2Atb-CinIu6joJvL8VCP73hHGEjZ-CSzVDSUnqqCpr9kCtdY9gXeeTmNnaaGApBJOsLtmsVTxBrdFhetk77FIrH_OLJ_i0Wtxa878EE3yMaUr3H6UEZivAbIMHK6SEd3-35x6_m30CVjfAzvdpePGyn3YYILGXzu_-IQuME1jC7Bm49gz4Du48w_4AGovMyA</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2101788293</pqid></control><display><type>article</type><title>A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia</title><source>Publicly Available Content Database</source><source>PubMed Central (PMC)</source><creator>Direk, Meltem ; Komur, Mustafa ; Ozgur, Anıl ; Okuyaz, Cetin</creator><creatorcontrib>Direk, Meltem ; Komur, Mustafa ; Ozgur, Anıl ; Okuyaz, Cetin</creatorcontrib><description>A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy. The filamin A gene mutation was negative. Posterior periventricular nodular heterotopia is a rarer and a more different entity from classical periventricular nodular heterotopia with no gender difference and negative filamin A gene mutation. There is a limited number of case studies on posterior periventricular heterotopia. Therefore, this patient was presented to emphasize that epilepsy may be more refractory to treatment, and central congenital abnormalities including posterior fossa abnormalities are more frequent in patients with posterior periventricular nodular heterotopia.</description><identifier>ISSN: 1817-1745</identifier><identifier>EISSN: 1998-3948</identifier><identifier>DOI: 10.4103/jpn.JPN_178_17</identifier><identifier>PMID: 30271470</identifier><language>eng</language><publisher>India: Wolters Kluwer India Pvt. Ltd</publisher><subject>Case Report ; Case studies ; Epilepsy ; Gene mutation ; Genetic aspects ; Mutation ; NMR ; Nuclear magnetic resonance ; Patients ; Seizures (Medicine)</subject><ispartof>Journal of pediatric neurosciences, 2018-07, Vol.13 (3), p.340-342</ispartof><rights>COPYRIGHT 2018 Medknow Publications and Media Pvt. Ltd.</rights><rights>2018. This work is published under https://creativecommons.org/licenses/by-nc-sa/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>Copyright: © 2018 Journal of Pediatric Neurosciences 2018</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144599/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.proquest.com/docview/2101788293?pq-origsite=primo$$EHTML$$P50$$Gproquest$$Hfree_for_read</linktohtml><link.rule.ids>230,314,727,780,784,885,25751,27922,27923,37010,44588,53789,53791</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30271470$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Direk, Meltem</creatorcontrib><creatorcontrib>Komur, Mustafa</creatorcontrib><creatorcontrib>Ozgur, Anıl</creatorcontrib><creatorcontrib>Okuyaz, Cetin</creatorcontrib><title>A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia</title><title>Journal of pediatric neurosciences</title><addtitle>J Pediatr Neurosci</addtitle><description>A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy. The filamin A gene mutation was negative. Posterior periventricular nodular heterotopia is a rarer and a more different entity from classical periventricular nodular heterotopia with no gender difference and negative filamin A gene mutation. There is a limited number of case studies on posterior periventricular heterotopia. Therefore, this patient was presented to emphasize that epilepsy may be more refractory to treatment, and central congenital abnormalities including posterior fossa abnormalities are more frequent in patients with posterior periventricular nodular heterotopia.</description><subject>Case Report</subject><subject>Case studies</subject><subject>Epilepsy</subject><subject>Gene mutation</subject><subject>Genetic aspects</subject><subject>Mutation</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><subject>Patients</subject><subject>Seizures (Medicine)</subject><issn>1817-1745</issn><issn>1998-3948</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2018</creationdate><recordtype>article</recordtype><sourceid>PIMPY</sourceid><recordid>eNp9kk1v1DAQhiMEoqVw5Ygicc5ix3bscEBaVYUWVbBCcB45zmTrbdYOdtLV_nucflKpIMsaS37m9XjmzbK3lCw4JezDZnCLr6tvQKVK-1l2SOtaFazm6nk6KyoLKrk4yF7FuCGEV7zkL7MDRkpJuSSH2Y9lHnTA3OgpYu67PGAXtBl92Oc42B6HuP-Yr3wcMVgf8iGFK3RjsGbqdcidb6_jBSbAj36w-nX2otN9xDe38Sj79fnk5_Fpcf79y9nx8rwwgipfVJWqOJPcKCOpRkMoNhpbZKqhpJGNoYKITqlGdIa3yjSVoC1lnRIUJakkO8o-3egOU7PF1sxV6R6GYLc67MFrC49vnL2Atb-CinIu6joJvL8VCP73hHGEjZ-CSzVDSUnqqCpr9kCtdY9gXeeTmNnaaGApBJOsLtmsVTxBrdFhetk77FIrH_OLJ_i0Wtxa878EE3yMaUr3H6UEZivAbIMHK6SEd3-35x6_m30CVjfAzvdpePGyn3YYILGXzu_-IQuME1jC7Bm49gz4Du48w_4AGovMyA</recordid><startdate>20180701</startdate><enddate>20180701</enddate><creator>Direk, Meltem</creator><creator>Komur, Mustafa</creator><creator>Ozgur, Anıl</creator><creator>Okuyaz, Cetin</creator><general>Wolters Kluwer India Pvt. Ltd</general><general>Medknow Publications and Media Pvt. Ltd</general><general>Medknow Publications &amp; Media Pvt. Ltd</general><general>Medknow Publications &amp; Media Pvt Ltd</general><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7X7</scope><scope>7XB</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>K9.</scope><scope>M0S</scope><scope>M2M</scope><scope>M2O</scope><scope>MBDVC</scope><scope>PADUT</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>5PM</scope></search><sort><creationdate>20180701</creationdate><title>A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia</title><author>Direk, Meltem ; Komur, Mustafa ; Ozgur, Anıl ; Okuyaz, Cetin</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c518o-66864374c8c71aec01ebaede38b10b7bc1505f88b5fc4d8cb651d13f851e70673</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2018</creationdate><topic>Case Report</topic><topic>Case studies</topic><topic>Epilepsy</topic><topic>Gene mutation</topic><topic>Genetic aspects</topic><topic>Mutation</topic><topic>NMR</topic><topic>Nuclear magnetic resonance</topic><topic>Patients</topic><topic>Seizures (Medicine)</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Direk, Meltem</creatorcontrib><creatorcontrib>Komur, Mustafa</creatorcontrib><creatorcontrib>Ozgur, Anıl</creatorcontrib><creatorcontrib>Okuyaz, Cetin</creatorcontrib><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>ProQuest_Health &amp; Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Psychology Database (Alumni)</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>ProQuest Health &amp; Medical Complete (Alumni)</collection><collection>Health &amp; Medical Collection (Alumni Edition)</collection><collection>Psychology Database</collection><collection>ProQuest_Research Library</collection><collection>Research Library (Corporate)</collection><collection>Research Library China</collection><collection>Publicly Available Content Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of pediatric neurosciences</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Direk, Meltem</au><au>Komur, Mustafa</au><au>Ozgur, Anıl</au><au>Okuyaz, Cetin</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia</atitle><jtitle>Journal of pediatric neurosciences</jtitle><addtitle>J Pediatr Neurosci</addtitle><date>2018-07-01</date><risdate>2018</risdate><volume>13</volume><issue>3</issue><spage>340</spage><epage>342</epage><pages>340-342</pages><issn>1817-1745</issn><eissn>1998-3948</eissn><abstract>A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation and medically refractory epilepsy. The filamin A gene mutation was negative. Posterior periventricular nodular heterotopia is a rarer and a more different entity from classical periventricular nodular heterotopia with no gender difference and negative filamin A gene mutation. There is a limited number of case studies on posterior periventricular heterotopia. Therefore, this patient was presented to emphasize that epilepsy may be more refractory to treatment, and central congenital abnormalities including posterior fossa abnormalities are more frequent in patients with posterior periventricular nodular heterotopia.</abstract><cop>India</cop><pub>Wolters Kluwer India Pvt. Ltd</pub><pmid>30271470</pmid><doi>10.4103/jpn.JPN_178_17</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 1817-1745
ispartof Journal of pediatric neurosciences, 2018-07, Vol.13 (3), p.340-342
issn 1817-1745
1998-3948
language eng
recordid cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6144599
source Publicly Available Content Database; PubMed Central (PMC)
subjects Case Report
Case studies
Epilepsy
Gene mutation
Genetic aspects
Mutation
NMR
Nuclear magnetic resonance
Patients
Seizures (Medicine)
title A rare cause of refractory epilepsy: Posterior periventricular nodular heterotopia
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-14T10%3A03%3A48IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=A%20rare%20cause%20of%20refractory%20epilepsy:%20Posterior%20periventricular%20nodular%20heterotopia&rft.jtitle=Journal%20of%20pediatric%20neurosciences&rft.au=Direk,%20Meltem&rft.date=2018-07-01&rft.volume=13&rft.issue=3&rft.spage=340&rft.epage=342&rft.pages=340-342&rft.issn=1817-1745&rft.eissn=1998-3948&rft_id=info:doi/10.4103/jpn.JPN_178_17&rft_dat=%3Cgale_pubme%3EA553739239%3C/gale_pubme%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c518o-66864374c8c71aec01ebaede38b10b7bc1505f88b5fc4d8cb651d13f851e70673%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=2101788293&rft_id=info:pmid/30271470&rft_galeid=A553739239&rfr_iscdi=true