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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...
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Published in: | Arquivos de neuro-psiquiatria 1995-12, Vol.53 (4), p.792-794 |
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container_title | Arquivos de neuro-psiquiatria |
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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 |
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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> |
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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 |
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