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Refractory seizures with global developmental delay: A rare cause
Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features.
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications & Media Pvt Ltd
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276994/ https://www.ncbi.nlm.nih.gov/pubmed/22345997 http://dx.doi.org/10.4103/0971-6866.92099 |
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author | Vinoth, P. N. Chacko, Betty Scott, J. Julius Xavier Venkatasai, |
author_facet | Vinoth, P. N. Chacko, Betty Scott, J. Julius Xavier Venkatasai, |
author_sort | Vinoth, P. N. |
collection | PubMed |
description | Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features. |
format | Online Article Text |
id | pubmed-3276994 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32769942012-02-16 Refractory seizures with global developmental delay: A rare cause Vinoth, P. N. Chacko, Betty Scott, J. Julius Xavier Venkatasai, Indian J Hum Genet Case Report Aicardi syndrome is a genetic disorder characterized by the triad of infantile spasm in flexion, callosal agenesis and ocular abnormalities (chorioretinal lacunae, coloboma of optic disc). We report a typical case of Aicardi syndrome with all the classical features. Medknow Publications & Media Pvt Ltd 2011 /pmc/articles/PMC3276994/ /pubmed/22345997 http://dx.doi.org/10.4103/0971-6866.92099 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Vinoth, P. N. Chacko, Betty Scott, J. Julius Xavier Venkatasai, Refractory seizures with global developmental delay: A rare cause |
title | Refractory seizures with global developmental delay: A rare cause |
title_full | Refractory seizures with global developmental delay: A rare cause |
title_fullStr | Refractory seizures with global developmental delay: A rare cause |
title_full_unstemmed | Refractory seizures with global developmental delay: A rare cause |
title_short | Refractory seizures with global developmental delay: A rare cause |
title_sort | refractory seizures with global developmental delay: a rare cause |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276994/ https://www.ncbi.nlm.nih.gov/pubmed/22345997 http://dx.doi.org/10.4103/0971-6866.92099 |
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