Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2
Abstract We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microde...
Gespeichert in:
| Veröffentlicht in: | Neuropediatrics 2002-12, Vol.33 (6), p.320-323 |
|---|---|
| Hauptverfasser: | , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 323 |
|---|---|
| container_issue | 6 |
| container_start_page | 320 |
| container_title | Neuropediatrics |
| container_volume | 33 |
| creator | Van Esch, H. Syrrou, M. Lagae, L. |
| description | Abstract
We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microdeletions and inversions on the affected chromosome. In this patient with refractory photosensitive epilepsy, 12 breakpoints and one small inversion were identified on the abnormal chromosome 2. Our data can be used in further genetic studies on the exact location and identification of photosensitivity genes. |
| doi_str_mv | 10.1055/s-2002-37088 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_72845518</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>72845518</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3288-506d9fbe97e4dbe9d4b3fc29ed786cab03b96079ba3e578a1daf6e21322301523</originalsourceid><addsrcrecordid>eNqF0M-L1DAYxvEgijuu3jxLLnrR6pukaZLjMqw_YEFZFMRLSdO3Tpa2qXk76vz3Zp2BvQie3suH54UvY08FvBag9RuqJICslAFr77GNqJWrhHXuPtuAMHWloP56xh4R3QCI2kHzkJ0JqY0w1m7Yt2scsg9rygf-aZfWRDhTXONP5JdLHHGhA78gSiH6FXv-K6477vk2TcuIv_k1-pz9_B0nnFeeBr7d5TQlShNy-Zg9GPxI-OR0z9mXt5eft--rq4_vPmwvrqqgpLWVhqZ3Q4fOYN2X09edGoJ02BvbBN-B6lwDxnVeoTbWi94PDUqhpFQgtFTn7MVxd8npxx5pbadIAcfRz5j21Bppa62F_S-U0IAtwwW-OsKQE1HGoV1ynHw-tALa2-jtLQbZ_o1e-LPT7r6bsL_Dp8oFPD8BT8GPJfgcIt25WoMQQhf38ujWXSxJ25u0z3NJ9--3fwCydJd-</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>20608213</pqid></control><display><type>article</type><title>Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2</title><source>MEDLINE</source><source>Thieme Connect Journals</source><creator>Van Esch, H. ; Syrrou, M. ; Lagae, L.</creator><creatorcontrib>Van Esch, H. ; Syrrou, M. ; Lagae, L.</creatorcontrib><description>Abstract
We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microdeletions and inversions on the affected chromosome. In this patient with refractory photosensitive epilepsy, 12 breakpoints and one small inversion were identified on the abnormal chromosome 2. Our data can be used in further genetic studies on the exact location and identification of photosensitivity genes.</description><identifier>ISSN: 0174-304X</identifier><identifier>EISSN: 1439-1899</identifier><identifier>DOI: 10.1055/s-2002-37088</identifier><identifier>PMID: 12571788</identifier><identifier>CODEN: NRPDDB</identifier><language>eng</language><publisher>Stuttgart: Thieme</publisher><subject>Beta Rhythm ; Biological and medical sciences ; Cerebral Cortex - physiopathology ; Chromosome aberrations ; Chromosomes, Human, Pair 2 ; Electroencephalography ; Epilepsies, Myoclonic - diagnosis ; Epilepsies, Myoclonic - genetics ; Epilepsies, Myoclonic - physiopathology ; Epilepsy, Reflex - diagnosis ; Epilepsy, Reflex - genetics ; Epilepsy, Reflex - physiopathology ; Evoked Potentials - physiology ; Follow-Up Studies ; Gene Rearrangement ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Infant ; Infant, Newborn ; Intellectual Disability - diagnosis ; Intellectual Disability - genetics ; Intellectual Disability - physiopathology ; Karyotyping ; Male ; Medical genetics ; Medical sciences ; Nervous system (semeiology, syndromes) ; Neurology ; Short Communication</subject><ispartof>Neuropediatrics, 2002-12, Vol.33 (6), p.320-323</ispartof><rights>Georg Thieme Verlag Stuttgart · New York</rights><rights>2003 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3288-506d9fbe97e4dbe9d4b3fc29ed786cab03b96079ba3e578a1daf6e21322301523</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-2002-37088.pdf$$EPDF$$P50$$Gthieme$$H</linktopdf><linktohtml>$$Uhttps://www.thieme-connect.de/products/ejournals/html/10.1055/s-2002-37088$$EHTML$$P50$$Gthieme$$H</linktohtml><link.rule.ids>314,777,781,3004,3005,27905,27906,54540,54541</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=14501115$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12571788$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Van Esch, H.</creatorcontrib><creatorcontrib>Syrrou, M.</creatorcontrib><creatorcontrib>Lagae, L.</creatorcontrib><title>Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2</title><title>Neuropediatrics</title><addtitle>Neuropediatrics</addtitle><description>Abstract
We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microdeletions and inversions on the affected chromosome. In this patient with refractory photosensitive epilepsy, 12 breakpoints and one small inversion were identified on the abnormal chromosome 2. Our data can be used in further genetic studies on the exact location and identification of photosensitivity genes.</description><subject>Beta Rhythm</subject><subject>Biological and medical sciences</subject><subject>Cerebral Cortex - physiopathology</subject><subject>Chromosome aberrations</subject><subject>Chromosomes, Human, Pair 2</subject><subject>Electroencephalography</subject><subject>Epilepsies, Myoclonic - diagnosis</subject><subject>Epilepsies, Myoclonic - genetics</subject><subject>Epilepsies, Myoclonic - physiopathology</subject><subject>Epilepsy, Reflex - diagnosis</subject><subject>Epilepsy, Reflex - genetics</subject><subject>Epilepsy, Reflex - physiopathology</subject><subject>Evoked Potentials - physiology</subject><subject>Follow-Up Studies</subject><subject>Gene Rearrangement</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - genetics</subject><subject>Intellectual Disability - physiopathology</subject><subject>Karyotyping</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Short Communication</subject><issn>0174-304X</issn><issn>1439-1899</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0M-L1DAYxvEgijuu3jxLLnrR6pukaZLjMqw_YEFZFMRLSdO3Tpa2qXk76vz3Zp2BvQie3suH54UvY08FvBag9RuqJICslAFr77GNqJWrhHXuPtuAMHWloP56xh4R3QCI2kHzkJ0JqY0w1m7Yt2scsg9rygf-aZfWRDhTXONP5JdLHHGhA78gSiH6FXv-K6477vk2TcuIv_k1-pz9_B0nnFeeBr7d5TQlShNy-Zg9GPxI-OR0z9mXt5eft--rq4_vPmwvrqqgpLWVhqZ3Q4fOYN2X09edGoJ02BvbBN-B6lwDxnVeoTbWi94PDUqhpFQgtFTn7MVxd8npxx5pbadIAcfRz5j21Bppa62F_S-U0IAtwwW-OsKQE1HGoV1ynHw-tALa2-jtLQbZ_o1e-LPT7r6bsL_Dp8oFPD8BT8GPJfgcIt25WoMQQhf38ujWXSxJ25u0z3NJ9--3fwCydJd-</recordid><startdate>200212</startdate><enddate>200212</enddate><creator>Van Esch, H.</creator><creator>Syrrou, M.</creator><creator>Lagae, L.</creator><general>Thieme</general><scope>IQODW</scope><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>7TK</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>200212</creationdate><title>Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2</title><author>Van Esch, H. ; Syrrou, M. ; Lagae, L.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3288-506d9fbe97e4dbe9d4b3fc29ed786cab03b96079ba3e578a1daf6e21322301523</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Beta Rhythm</topic><topic>Biological and medical sciences</topic><topic>Cerebral Cortex - physiopathology</topic><topic>Chromosome aberrations</topic><topic>Chromosomes, Human, Pair 2</topic><topic>Electroencephalography</topic><topic>Epilepsies, Myoclonic - diagnosis</topic><topic>Epilepsies, Myoclonic - genetics</topic><topic>Epilepsies, Myoclonic - physiopathology</topic><topic>Epilepsy, Reflex - diagnosis</topic><topic>Epilepsy, Reflex - genetics</topic><topic>Epilepsy, Reflex - physiopathology</topic><topic>Evoked Potentials - physiology</topic><topic>Follow-Up Studies</topic><topic>Gene Rearrangement</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Intellectual Disability - diagnosis</topic><topic>Intellectual Disability - genetics</topic><topic>Intellectual Disability - physiopathology</topic><topic>Karyotyping</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Short Communication</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Van Esch, H.</creatorcontrib><creatorcontrib>Syrrou, M.</creatorcontrib><creatorcontrib>Lagae, L.</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Neuropediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Van Esch, H.</au><au>Syrrou, M.</au><au>Lagae, L.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2</atitle><jtitle>Neuropediatrics</jtitle><addtitle>Neuropediatrics</addtitle><date>2002-12</date><risdate>2002</risdate><volume>33</volume><issue>6</issue><spage>320</spage><epage>323</epage><pages>320-323</pages><issn>0174-304X</issn><eissn>1439-1899</eissn><coden>NRPDDB</coden><abstract>Abstract
We describe the relevant clinical and therapeutic parameters in a single patient with a complex chromosome 2 abnormality presenting with refractory myoclonic photosensitive epilepsy. FISH technology using yeast artificial chromosomes (YACs) was employed to determine breakage points, microdeletions and inversions on the affected chromosome. In this patient with refractory photosensitive epilepsy, 12 breakpoints and one small inversion were identified on the abnormal chromosome 2. Our data can be used in further genetic studies on the exact location and identification of photosensitivity genes.</abstract><cop>Stuttgart</cop><pub>Thieme</pub><pmid>12571788</pmid><doi>10.1055/s-2002-37088</doi><tpages>4</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0174-304X |
| ispartof | Neuropediatrics, 2002-12, Vol.33 (6), p.320-323 |
| issn | 0174-304X 1439-1899 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_72845518 |
| source | MEDLINE; Thieme Connect Journals |
| subjects | Beta Rhythm Biological and medical sciences Cerebral Cortex - physiopathology Chromosome aberrations Chromosomes, Human, Pair 2 Electroencephalography Epilepsies, Myoclonic - diagnosis Epilepsies, Myoclonic - genetics Epilepsies, Myoclonic - physiopathology Epilepsy, Reflex - diagnosis Epilepsy, Reflex - genetics Epilepsy, Reflex - physiopathology Evoked Potentials - physiology Follow-Up Studies Gene Rearrangement Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Infant Infant, Newborn Intellectual Disability - diagnosis Intellectual Disability - genetics Intellectual Disability - physiopathology Karyotyping Male Medical genetics Medical sciences Nervous system (semeiology, syndromes) Neurology Short Communication |
| title | Refractory Photosensitive Epilepsy Associated with a Complex Rearrangement of Chromosome 2 |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-19T05%3A30%3A46IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Refractory%20Photosensitive%20Epilepsy%20Associated%20with%20a%20Complex%20Rearrangement%20of%20Chromosome%202&rft.jtitle=Neuropediatrics&rft.au=Van%20Esch,%20H.&rft.date=2002-12&rft.volume=33&rft.issue=6&rft.spage=320&rft.epage=323&rft.pages=320-323&rft.issn=0174-304X&rft.eissn=1439-1899&rft.coden=NRPDDB&rft_id=info:doi/10.1055/s-2002-37088&rft_dat=%3Cproquest_cross%3E72845518%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=20608213&rft_id=info:pmid/12571788&rfr_iscdi=true |