Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3

Familial Adult Myoclonic Epilepsy (FAME) is a genetically heterogeneous disorder characterized by cortical tremor and seizures. Intronic TTTTA/TTTCA repeat expansions in SAMD12 (FAME1) are the main cause of FAME in Asia. Using genome sequencing and repeat-primed PCR, we identify another site of this...

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izdano v:Nat Commun
Main Authors: Florian, Rahel T., Kraft, Florian, Leitão, Elsa, Kaya, Sabine, Klebe, Stephan, Magnin, Eloi, van Rootselaar, Anne-Fleur, Buratti, Julien, Kühnel, Theresa, Schröder, Christopher, Giesselmann, Sebastian, Tschernoster, Nikolai, Altmueller, Janine, Lamiral, Anaide, Keren, Boris, Nava, Caroline, Bouteiller, Delphine, Forlani, Sylvie, Jornea, Ludmila, Kubica, Regina, Ye, Tao, Plassard, Damien, Jost, Bernard, Meyer, Vincent, Deleuze, Jean-François, Delpu, Yannick, Avarello, Mario D. M., Vijfhuizen, Lisanne S., Rudolf, Gabrielle, Hirsch, Edouard, Kroes, Thessa, Reif, Philipp S., Rosenow, Felix, Ganos, Christos, Vidailhet, Marie, Thivard, Lionel, Mathieu, Alexandre, Bourgeron, Thomas, Kurth, Ingo, Rafehi, Haloom, Steenpass, Laura, Horsthemke, Bernhard, LeGuern, Eric, Klein, Karl Martin, Labauge, Pierre, Bennett, Mark F., Bahlo, Melanie, Gecz, Jozef, Corbett, Mark A., Tijssen, Marina A. J., van den Maagdenberg, Arn M. J. M., Depienne, Christel
Format: Artigo
Jezik:Inglês
Izdano: Nature Publishing Group UK 2019
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6820781/
https://ncbi.nlm.nih.gov/pubmed/31664039
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41467-019-12763-9
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