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Papers of the Week

2020 Apr 21

Ann Clin Transl Neurol

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


Crippa M, Malatesta P, Teresa Bonati M, Trapasso F, Fortunato F, Annesi G, Larizza L, Labate A, Finelli P, Perrotti N, Gambardella A
Ann Clin Transl Neurol. 2020 Apr 21.
PMID: 32315120.


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.