Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as...
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Nature Portfolio
2019
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oai:doaj.org-article:2f5cdb4c14f6434cb404877f2fe7a12e2021-12-02T16:57:09ZUnstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 310.1038/s41467-019-12763-92041-1723https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e2019-10-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-12763-9https://doaj.org/toc/2041-1723Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3.Rahel T. FlorianFlorian KraftElsa LeitãoSabine KayaStephan KlebeEloi MagninAnne-Fleur van RootselaarJulien BurattiTheresa KühnelChristopher SchröderSebastian GiesselmannNikolai TschernosterJanine AltmuellerAnaide LamiralBoris KerenCaroline NavaDelphine BouteillerSylvie ForlaniLudmila JorneaRegina KubicaTao YeDamien PlassardBernard JostVincent MeyerJean-François DeleuzeYannick DelpuMario D. M. AvarelloLisanne S. VijfhuizenGabrielle RudolfEdouard HirschThessa KroesPhilipp S. ReifFelix RosenowChristos GanosMarie VidailhetLionel ThivardAlexandre MathieuThomas BourgeronIngo KurthHaloom RafehiLaura SteenpassBernhard HorsthemkeFAME consortiumEric LeGuernKarl Martin KleinPierre LabaugeMark F. BennettMelanie BahloJozef GeczMark A. CorbettMarina A. J. TijssenArn M. J. M. van den MaagdenbergChristel DepienneNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-14 (2019) |
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DOAJ |
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EN |
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Science Q |
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Science Q Rahel T. Florian Florian Kraft Elsa Leitão Sabine Kaya Stephan Klebe Eloi Magnin Anne-Fleur van Rootselaar Julien Buratti Theresa Kühnel Christopher Schröder Sebastian Giesselmann Nikolai Tschernoster Janine Altmueller Anaide Lamiral Boris Keren Caroline Nava Delphine Bouteiller Sylvie Forlani Ludmila Jornea Regina Kubica Tao Ye Damien Plassard Bernard Jost Vincent Meyer Jean-François Deleuze Yannick Delpu Mario D. M. Avarello Lisanne S. Vijfhuizen Gabrielle Rudolf Edouard Hirsch Thessa Kroes Philipp S. Reif Felix Rosenow Christos Ganos Marie Vidailhet Lionel Thivard Alexandre Mathieu Thomas Bourgeron Ingo Kurth Haloom Rafehi Laura Steenpass Bernhard Horsthemke FAME consortium Eric LeGuern Karl Martin Klein Pierre Labauge Mark F. Bennett Melanie Bahlo Jozef Gecz Mark A. Corbett Marina A. J. Tijssen Arn M. J. M. van den Maagdenberg Christel Depienne Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
| description |
Familial cortical myoclonic tremor with epilepsy (FAME) is a slowly progressing cortical tremor mapping to various genomic loci, including intronic expansions in SAMD12 for FAME1. Here, Florian et al. describe mixed intronic TTTTA/TTTCA expansions of various lengths in the first intron of MARCH6 as a cause of FAME3. |
| format |
article |
| author |
Rahel T. Florian Florian Kraft Elsa Leitão Sabine Kaya Stephan Klebe Eloi Magnin Anne-Fleur van Rootselaar Julien Buratti Theresa Kühnel Christopher Schröder Sebastian Giesselmann Nikolai Tschernoster Janine Altmueller Anaide Lamiral Boris Keren Caroline Nava Delphine Bouteiller Sylvie Forlani Ludmila Jornea Regina Kubica Tao Ye Damien Plassard Bernard Jost Vincent Meyer Jean-François Deleuze Yannick Delpu Mario D. M. Avarello Lisanne S. Vijfhuizen Gabrielle Rudolf Edouard Hirsch Thessa Kroes Philipp S. Reif Felix Rosenow Christos Ganos Marie Vidailhet Lionel Thivard Alexandre Mathieu Thomas Bourgeron Ingo Kurth Haloom Rafehi Laura Steenpass Bernhard Horsthemke FAME consortium Eric LeGuern Karl Martin Klein Pierre Labauge Mark F. Bennett Melanie Bahlo Jozef Gecz Mark A. Corbett Marina A. J. Tijssen Arn M. J. M. van den Maagdenberg Christel Depienne |
| author_facet |
Rahel T. Florian Florian Kraft Elsa Leitão Sabine Kaya Stephan Klebe Eloi Magnin Anne-Fleur van Rootselaar Julien Buratti Theresa Kühnel Christopher Schröder Sebastian Giesselmann Nikolai Tschernoster Janine Altmueller Anaide Lamiral Boris Keren Caroline Nava Delphine Bouteiller Sylvie Forlani Ludmila Jornea Regina Kubica Tao Ye Damien Plassard Bernard Jost Vincent Meyer Jean-François Deleuze Yannick Delpu Mario D. M. Avarello Lisanne S. Vijfhuizen Gabrielle Rudolf Edouard Hirsch Thessa Kroes Philipp S. Reif Felix Rosenow Christos Ganos Marie Vidailhet Lionel Thivard Alexandre Mathieu Thomas Bourgeron Ingo Kurth Haloom Rafehi Laura Steenpass Bernhard Horsthemke FAME consortium Eric LeGuern Karl Martin Klein Pierre Labauge Mark F. Bennett Melanie Bahlo Jozef Gecz Mark A. Corbett Marina A. J. Tijssen Arn M. J. M. van den Maagdenberg Christel Depienne |
| author_sort |
Rahel T. Florian |
| title |
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
| title_short |
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
| title_full |
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
| title_fullStr |
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
| title_full_unstemmed |
Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3 |
| title_sort |
unstable tttta/tttca expansions in march6 are associated with familial adult myoclonic epilepsy type 3 |
| publisher |
Nature Portfolio |
| publishDate |
2019 |
| url |
https://doaj.org/article/2f5cdb4c14f6434cb404877f2fe7a12e |
| work_keys_str_mv |
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