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Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families.

Neurogenetics - 1 May 2008

Madia Francesca, Striano Pasquale, Di Bonaventura Carlo, de Falco Arturo, de Falco Fabrizio A, Manfredi Mario, Casari Giorgio, Striano Salvatore, Minetti Carlo, Zara Federico

Abstract excerpt

Benign adult familial myoclonic epilepsy (BAFME or FAME) is an autosomal dominant condition, characterized by shivering-like tremors of cortical origin, myoclonus, and epilepsy. Linkage to chromosomes 2p11.1-q12.2 and 8q23.1-q24.11 has been reported in Japanese and Italian families, respectively. We aimed to determine whether a common founder haplotype was shared by five BAFME families from southern Italy and...

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PMID: 18231815
DOI: 10.1007/s10048-008-0118-4

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