Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

doi:10.1007/s00439-016-1700-8

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Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Human genetics - 1 Oct 2016

Henden Lyndal, Freytag Saskia, Afawi Zaid, Baldassari Sara, Berkovic Samuel F, Bisulli Francesca, Canafoglia Laura, Casari Giorgio, Crompton Douglas Ewan, Depienne Christel, Gecz Jozef, Guerrini Renzo, Helbig Ingo, Hirsch Edouard, Keren Boris, Klein Karl Martin, Labauge Pierre, LeGuern Eric, Licchetta Laura, Mei Davide, Nava Caroline, Pippucci Tommaso, Rudolf Gabrielle, Scheffer Ingrid Eileen, Striano Pasquale, Tinuper Paolo, Zara Federico, Corbett Mark, Bahlo Melanie

Abstract excerpt

Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage...

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PMID: 27368338
DOI: 10.1007/s00439-016-1700-8

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