Journal article

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

Lyndal Henden, Saskia Freytag, Zaid Afawi, Sara Baldassari, Samuel F Berkovic, Francesca Bisulli, Laura Canafoglia, Giorgio Casari, Douglas Ewan Crompton, Christel Depienne, Jozef Gecz, Renzo Guerrini, Ingo Helbig, Edouard Hirsch, Boris Keren, Karl Martin Klein, Pierre Labauge, Eric LeGuern, Laura Licchetta, Davide Mei Show all

HUMAN GENETICS | SPRINGER | Published : 2016

Abstract

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 analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alt..

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Grants

Awarded by National Health and Medical Research Council (NHMRC)


Awarded by NHMRC Senior Research Fellowship


Funding Acknowledgements

We thank the families for their participation in this study. This work was supported by the National Health and Medical Research Council (NHMRC) Program Grant (628952) to J.G. M.B. was supported by an NHMRC Senior Research Fellowship (1002098) and NHMRC Program Grant (APP1054618). L.H. was supported by The John and Patricia Farrant Scholarship and the Australian Postgraduate Award Scholarship. This work was also supported by Victorian State Government Operational Infrastructure Support, Australian Government NHMRC IRIISS funding, Fondation Maladies rares, Assistance publique des hopitaux de Paris (AP-HP) and Universite Pierre et Marie-Curie (UPMC).