Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters
Our study reports two nontwin sisters with late-onset Lennox-Gastaut syndrome and chromosome 15q duplication, showing the evolution, symptoms, diagnosis, and treatment of these patients, with the aim of increasing knowledge about this extremely rare association. They had a variety of generalized sei...
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| Veröffentlicht in: | Journal of neurosciences in rural practice 2022-04, Vol.13 (2), p.348-350, Article 348 |
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| container_title | Journal of neurosciences in rural practice |
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| creator | Honorato, Marcos Manoel Santos, Adriane Cristina Vieira Dos da Silva, Felipe Luan Lima Cremaschi, Renata Carvalho Coelho, Fernando Morgadinho |
| description | Our study reports two nontwin sisters with late-onset Lennox-Gastaut syndrome and chromosome 15q duplication, showing the evolution, symptoms, diagnosis, and treatment of these patients, with the aim of increasing knowledge about this extremely rare association. They had a variety of generalized seizures types, intellectual disability, electroencephalogram with generalized epileptiform discharges less than 3 Hz, dysmorphisms, and genetic studies with the presence of duplicated chromosome 15. Cases reported here may be related to chromosomal changes inherited from their asymptomatic mother. |
| doi_str_mv | 10.1055/s-0042-1743457 |
| format | Article |
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They had a variety of generalized seizures types, intellectual disability, electroencephalogram with generalized epileptiform discharges less than 3 Hz, dysmorphisms, and genetic studies with the presence of duplicated chromosome 15. Cases reported here may be related to chromosomal changes inherited from their asymptomatic mother.</description><identifier>ISSN: 0976-3147</identifier><identifier>EISSN: 0976-3155</identifier><identifier>DOI: 10.1055/s-0042-1743457</identifier><identifier>PMID: 35694068</identifier><language>eng</language><publisher>United States: Thieme Medical and Scientific Publishers Pvt. Ltd</publisher><subject>Case Report</subject><ispartof>Journal of neurosciences in rural practice, 2022-04, Vol.13 (2), p.348-350, Article 348</ispartof><rights>Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. ( https://creativecommons.org/licenses/by-nc-nd/4.0/ ).</rights><rights>Association for Helping Neurosurgical Sick People. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. 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| identifier | ISSN: 0976-3147 |
| ispartof | Journal of neurosciences in rural practice, 2022-04, Vol.13 (2), p.348-350, Article 348 |
| issn | 0976-3147 0976-3155 |
| language | eng |
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| source | PubMed Central Open Access; Thieme Connect Journals Open Access; EZB-FREE-00999 freely available EZB journals; PubMed Central |
| subjects | Case Report |
| title | Late-Onset Lennox-Gastaut Syndrome with Chromosome 15q Duplication in Sisters |
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