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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Detalles Bibliográficos
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

Internet

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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