Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication

Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole‐exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual unders...

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Detalles Bibliográficos
Autores principales: Jones, Kevin, Weiss, Shelly K., Minassian, Berge
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2016
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929804/
https://www.ncbi.nlm.nih.gov/pubmed/27386127
http://dx.doi.org/10.1002/ccr3.591
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author Jones, Kevin
Weiss, Shelly K.
Minassian, Berge
author_facet Jones, Kevin
Weiss, Shelly K.
Minassian, Berge
author_sort Jones, Kevin
collection PubMed
description Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole‐exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease.
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spelling pubmed-49298042016-07-06 Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication Jones, Kevin Weiss, Shelly K. Minassian, Berge Clin Case Rep Case Reports Patients presenting with infantile spasms, dysmorphic features, and periventricular nodular heterotopia may benefit from genetic copy number variation microarray, or whole‐exome sequencing to identify candidate genes. This will allow personalized diagnosis and prognostication and the eventual understanding of single and combined gene functions in brain health and disease. John Wiley and Sons Inc. 2016-06-03 /pmc/articles/PMC4929804/ /pubmed/27386127 http://dx.doi.org/10.1002/ccr3.591 Text en © 2016 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial‐NoDerivs (http://creativecommons.org/licenses/by-nc-nd/4.0/) License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non‐commercial and no modifications or adaptations are made.
spellingShingle Case Reports
Jones, Kevin
Weiss, Shelly K.
Minassian, Berge
Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
title Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
title_full Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
title_fullStr Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
title_full_unstemmed Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
title_short Infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
title_sort infantile spasms with periventricular nodular heterotopia, unbalanced chromosomal translocation 3p26.2 ‐10p15.1 and 6q22.31 duplication
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4929804/
https://www.ncbi.nlm.nih.gov/pubmed/27386127
http://dx.doi.org/10.1002/ccr3.591
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