PMC Articles for MedGen (Select 462210) - PMC

Select item 68207811.

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

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

Nat Commun. 2019; 10: 4919. Published online 2019 Oct 29. doi: 10.1038/s41467-019-12763-9

PMCID:: PMC6820781

Abstract Article PDF–2.4M

Select item 58013392.

Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review

Tom van den Ende, Sarvi Sharifi, Sandra M. A. van der Salm, Anne-Fleur van Rootselaar

Tremor Other Hyperkinet Mov (N Y) 2018; 8: 503. Published online 2018 Jan 23. doi: 10.7916/D85155WJ

PMCID:: PMC5801339

Abstract Article PDF–2.9M

Select item 102972513.

Familial Adult Myoclonus Epilepsy: A Non-Coding Repeat Expansion Disorder of Cerebellar–Thalamic–Cortical Loop

Claudia Cuccurullo, Pasquale Striano, Antonietta Coppola

Cells. 2023 Jun; 12(12): 1617. Published online 2023 Jun 13. doi: 10.3390/cells12121617

PMCID:: PMC10297251

Abstract Article PDF–1.5M

Select item 102355704.

A novel FAME1 repeat configuration in a European family identified using a combined genomics approach

Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein

Epilepsia Open. 2023 Jun; 8(2): 659–665. Published online 2023 Feb 16. doi: 10.1002/epi4.12702

PMCID:: PMC10235570

Abstract Article PDF–7.3M

Select item 35482665.

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Patra Yeetong, Surasawadee Ausavarat, Roongroj Bhidayasiri, Krisna Piravej, Nath Pasutharnchat, Tayard Desudchit, Chaipat Chunharas, Jakrin Loplumlert, Chusak Limotai, Kanya Suphapeetiporn, Vorasuk Shotelersuk

Eur J Hum Genet. 2013 Feb; 21(2): 225–228. Published online 2012 Jun 20. doi: 10.1038/ejhg.2012.133

PMCID:: PMC3548266

Abstract Article PDF–2.0M

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