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

Abstract 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....

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Principais autores: Tatiana Maroilley, Meng‐Han Tsai, Rumika Mascarenhas, Catherine Diao, Maryam Khanbabaei, Sabine Kaya, Christel Depienne, Maja Tarailo‐Graovac, Karl Martin Klein
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2023-06-01
Serier:Epilepsia Open
Fag:
FAME
long‐read sequencing
optical genome mapping
repeat expansion
SAMD12
short‐read sequencing
Online adgang:https://doi.org/10.1002/epi4.12702
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