A novel FAME1 repeat configuration in a European family identified using a combined genomics approach
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DOI: 10.1002/epi4.12702
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… read more here.
Keywords: samd12 locus; configuration; novel fame1; repeat ... See more keywords