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

Familial adult myoclonic epilepsy (FAME) is an adult‐onset neurological disease characterized by cortical tremor, myoclonus, and seizures due to a pentanucleotide repeat expansion: a combination of pathogenic TTTCA expansion associated with a TTTTA repeat in introns of six different genes. Repeat‐pr...

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Detalles Bibliográficos
Autores principales: Maroilley, Tatiana, Tsai, Meng‐Han, Mascarenhas, Rumika, Diao, Catherine, Khanbabaei, Maryam, Kaya, Sabine, Depienne, Christel, Tarailo‐Graovac, Maja, Klein, Karl Martin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Short Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235570/
https://www.ncbi.nlm.nih.gov/pubmed/36740228
http://dx.doi.org/10.1002/epi4.12702

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235570/
https://www.ncbi.nlm.nih.gov/pubmed/36740228
http://dx.doi.org/10.1002/epi4.12702

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