A familial t(4;8) translocation segregates with epilepsy and migraine with aura

Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self‐limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3’UTR of STIM2 gene. STIM2 was o...

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Autores principales: Crippa, Milena, Malatesta, Paola, Bonati, Maria Teresa, Trapasso, Francesco, Fortunato, Francesco, Annesi, Grazia, Larizza, Lidia, Labate, Angelo, Finelli, Palma, Perrotti, Nicola, Gambardella, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261755/
https://www.ncbi.nlm.nih.gov/pubmed/32315120
http://dx.doi.org/10.1002/acn3.51040
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author Crippa, Milena
Malatesta, Paola
Bonati, Maria Teresa
Trapasso, Francesco
Fortunato, Francesco
Annesi, Grazia
Larizza, Lidia
Labate, Angelo
Finelli, Palma
Perrotti, Nicola
Gambardella, Antonio
author_facet Crippa, Milena
Malatesta, Paola
Bonati, Maria Teresa
Trapasso, Francesco
Fortunato, Francesco
Annesi, Grazia
Larizza, Lidia
Labate, Angelo
Finelli, Palma
Perrotti, Nicola
Gambardella, Antonio
author_sort Crippa, Milena
collection PubMed
description Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self‐limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3’UTR of STIM2 gene. STIM2 was overexpressed in the patient carrying the unbalanced translocation, and all three individuals had a single functional copy of CSMD1. Array CGH study disclosed that these three individuals also carried a deletion at 5q12.3 that involves the RGS7BP gene. The overall results favor the view that CSMD1, STIM2, and RGS7BP genes could contribute to epilepsy and migraine phenotypes in our family.
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spelling pubmed-72617552020-06-01 A familial t(4;8) translocation segregates with epilepsy and migraine with aura Crippa, Milena Malatesta, Paola Bonati, Maria Teresa Trapasso, Francesco Fortunato, Francesco Annesi, Grazia Larizza, Lidia Labate, Angelo Finelli, Palma Perrotti, Nicola Gambardella, Antonio Ann Clin Transl Neurol Brief Communication Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self‐limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3’UTR of STIM2 gene. STIM2 was overexpressed in the patient carrying the unbalanced translocation, and all three individuals had a single functional copy of CSMD1. Array CGH study disclosed that these three individuals also carried a deletion at 5q12.3 that involves the RGS7BP gene. The overall results favor the view that CSMD1, STIM2, and RGS7BP genes could contribute to epilepsy and migraine phenotypes in our family. John Wiley and Sons Inc. 2020-04-21 /pmc/articles/PMC7261755/ /pubmed/32315120 http://dx.doi.org/10.1002/acn3.51040 Text en © 2020 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Communication
Crippa, Milena
Malatesta, Paola
Bonati, Maria Teresa
Trapasso, Francesco
Fortunato, Francesco
Annesi, Grazia
Larizza, Lidia
Labate, Angelo
Finelli, Palma
Perrotti, Nicola
Gambardella, Antonio
A familial t(4;8) translocation segregates with epilepsy and migraine with aura
title A familial t(4;8) translocation segregates with epilepsy and migraine with aura
title_full A familial t(4;8) translocation segregates with epilepsy and migraine with aura
title_fullStr A familial t(4;8) translocation segregates with epilepsy and migraine with aura
title_full_unstemmed A familial t(4;8) translocation segregates with epilepsy and migraine with aura
title_short A familial t(4;8) translocation segregates with epilepsy and migraine with aura
title_sort familial t(4;8) translocation segregates with epilepsy and migraine with aura
topic Brief Communication
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7261755/
https://www.ncbi.nlm.nih.gov/pubmed/32315120
http://dx.doi.org/10.1002/acn3.51040
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