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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.

Detalles Bibliográficos
Autores principales: Vinoth, P. N., Chacko, Betty, Scott, J. Julius Xavier, Venkatasai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2011
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.
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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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