Loading…

Myoclonic epilepsy of late onset in trisomy 21

We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progr...

Full description

Saved in:
Bibliographic Details
Published in:Arquivos de neuro-psiquiatria 1995-12, Vol.53 (4), p.792-794
Main Authors: Li, L M, O'Donoghue, M F, Sander, J W
Format: Article
Language:English
Subjects:
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
cited_by cdi_FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33
cites cdi_FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33
container_end_page 794
container_issue 4
container_start_page 792
container_title Arquivos de neuro-psiquiatria
container_volume 53
creator Li, L M
O'Donoghue, M F
Sander, J W
description We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.
doi_str_mv 10.1590/s0004-282x1995000500014
format article
fullrecord <record><control><sourceid>proquest_sciel</sourceid><recordid>TN_cdi_scielo_journals_S0004_282X1995000500014</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><scielo_id>S0004_282X1995000500014</scielo_id><sourcerecordid>77891025</sourcerecordid><originalsourceid>FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33</originalsourceid><addsrcrecordid>eNp9UMFKxDAQDaKs6-oniD156zpJm01ylMVVYcWDCt5Cm04gS9vUpgX797bsKnrxMMwM89483iPkisKScgU3AQDSmEn2SZXi4zIVTY_I_PvwfvxrPiVnIewAWKqUmJGZFEwJwedk-TR4U_ramQgbV2IThsjbqMw6jHwdsItcHXWtC74aIkbPyYnNyoAXh74gb5u71_VDvH2-f1zfbmOTrlgXs8JiAVIJmXOTIU0tCMxVCqCMoRIpF1TyjCMkFgxfMZGDWAlaKGpBYpIsyHL_NxiHpdc737f1KKhfJkt6svTH90i43hOa1n_0GDpduWCwLLMafR-0EFJRYHwEij3QtD6EFq1uWldl7aAp6CnafyQuDxJ9XmHxwztkmXwBKDlwOw</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>77891025</pqid></control><display><type>article</type><title>Myoclonic epilepsy of late onset in trisomy 21</title><source>SciELO Brazil</source><creator>Li, L M ; O'Donoghue, M F ; Sander, J W</creator><creatorcontrib>Li, L M ; O'Donoghue, M F ; Sander, J W</creatorcontrib><description>We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.</description><identifier>ISSN: 0004-282X</identifier><identifier>ISSN: 1678-4227</identifier><identifier>EISSN: 0004-282X</identifier><identifier>DOI: 10.1590/s0004-282x1995000500014</identifier><identifier>PMID: 8729775</identifier><language>eng</language><publisher>Brazil: Academia Brasileira de Neurologia - ABNEURO</publisher><subject>Down Syndrome - complications ; Epilepsies, Myoclonic - etiology ; Humans ; Male ; Middle Aged ; NEUROSCIENCES ; PSYCHIATRY</subject><ispartof>Arquivos de neuro-psiquiatria, 1995-12, Vol.53 (4), p.792-794</ispartof><rights>This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33</citedby><cites>FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>230,314,780,784,885,24150,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/8729775$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Li, L M</creatorcontrib><creatorcontrib>O'Donoghue, M F</creatorcontrib><creatorcontrib>Sander, J W</creatorcontrib><title>Myoclonic epilepsy of late onset in trisomy 21</title><title>Arquivos de neuro-psiquiatria</title><addtitle>Arq Neuropsiquiatr</addtitle><description>We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.</description><subject>Down Syndrome - complications</subject><subject>Epilepsies, Myoclonic - etiology</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>NEUROSCIENCES</subject><subject>PSYCHIATRY</subject><issn>0004-282X</issn><issn>1678-4227</issn><issn>0004-282X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1995</creationdate><recordtype>article</recordtype><recordid>eNp9UMFKxDAQDaKs6-oniD156zpJm01ylMVVYcWDCt5Cm04gS9vUpgX797bsKnrxMMwM89483iPkisKScgU3AQDSmEn2SZXi4zIVTY_I_PvwfvxrPiVnIewAWKqUmJGZFEwJwedk-TR4U_ramQgbV2IThsjbqMw6jHwdsItcHXWtC74aIkbPyYnNyoAXh74gb5u71_VDvH2-f1zfbmOTrlgXs8JiAVIJmXOTIU0tCMxVCqCMoRIpF1TyjCMkFgxfMZGDWAlaKGpBYpIsyHL_NxiHpdc737f1KKhfJkt6svTH90i43hOa1n_0GDpduWCwLLMafR-0EFJRYHwEij3QtD6EFq1uWldl7aAp6CnafyQuDxJ9XmHxwztkmXwBKDlwOw</recordid><startdate>19951201</startdate><enddate>19951201</enddate><creator>Li, L M</creator><creator>O'Donoghue, M F</creator><creator>Sander, J W</creator><general>Academia Brasileira de Neurologia - ABNEURO</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope><scope>GPN</scope></search><sort><creationdate>19951201</creationdate><title>Myoclonic epilepsy of late onset in trisomy 21</title><author>Li, L M ; O'Donoghue, M F ; Sander, J W</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1995</creationdate><topic>Down Syndrome - complications</topic><topic>Epilepsies, Myoclonic - etiology</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>NEUROSCIENCES</topic><topic>PSYCHIATRY</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Li, L M</creatorcontrib><creatorcontrib>O'Donoghue, M F</creatorcontrib><creatorcontrib>Sander, J W</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>SciELO</collection><jtitle>Arquivos de neuro-psiquiatria</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Li, L M</au><au>O'Donoghue, M F</au><au>Sander, J W</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Myoclonic epilepsy of late onset in trisomy 21</atitle><jtitle>Arquivos de neuro-psiquiatria</jtitle><addtitle>Arq Neuropsiquiatr</addtitle><date>1995-12-01</date><risdate>1995</risdate><volume>53</volume><issue>4</issue><spage>792</spage><epage>794</epage><pages>792-794</pages><issn>0004-282X</issn><issn>1678-4227</issn><eissn>0004-282X</eissn><abstract>We report the case of a patient with trisomy 21 (T21) with late onset epilepsy. The electroclinical features were of myoclonic jerks on awakening and generalised tonic clonic seizures, with generalised spike and wave on EEG, and a progressive dementia. As familial Alzheimer's dementia and progressive myoclonic epilepsy (Unverricht-Lundborg type) are both linked to the chromosome 21, this case may represent a distinct progressive myoclonic epilepsy related to T21.</abstract><cop>Brazil</cop><pub>Academia Brasileira de Neurologia - ABNEURO</pub><pmid>8729775</pmid><doi>10.1590/s0004-282x1995000500014</doi><tpages>3</tpages><oa>free_for_read</oa></addata></record>
fulltext fulltext
identifier ISSN: 0004-282X
ispartof Arquivos de neuro-psiquiatria, 1995-12, Vol.53 (4), p.792-794
issn 0004-282X
1678-4227
0004-282X
language eng
recordid cdi_scielo_journals_S0004_282X1995000500014
source SciELO Brazil
subjects Down Syndrome - complications
Epilepsies, Myoclonic - etiology
Humans
Male
Middle Aged
NEUROSCIENCES
PSYCHIATRY
title Myoclonic epilepsy of late onset in trisomy 21
url http://sfxeu10.hosted.exlibrisgroup.com/loughborough?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-05T10%3A27%3A36IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_sciel&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Myoclonic%20epilepsy%20of%20late%20onset%20in%20trisomy%2021&rft.jtitle=Arquivos%20de%20neuro-psiquiatria&rft.au=Li,%20L%20M&rft.date=1995-12-01&rft.volume=53&rft.issue=4&rft.spage=792&rft.epage=794&rft.pages=792-794&rft.issn=0004-282X&rft.eissn=0004-282X&rft_id=info:doi/10.1590/s0004-282x1995000500014&rft_dat=%3Cproquest_sciel%3E77891025%3C/proquest_sciel%3E%3Cgrp_id%3Ecdi_FETCH-LOGICAL-c462t-2dfed08978b5cae14f07eb94009cc18e157185a5e03f0c5627b07671d91f08e33%3C/grp_id%3E%3Coa%3E%3C/oa%3E%3Curl%3E%3C/url%3E&rft_id=info:oai/&rft_pqid=77891025&rft_id=info:pmid/8729775&rft_scielo_id=S0004_282X1995000500014&rfr_iscdi=true