Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification.

摘要

Depienne and colleagues recently mapped to 5pl5.31-pl5 a French family with cortical tremor, myoclonus, and epilepsy [1]. This is the third locus identified in this condition, which was first recognized and linked to 8q23.3-q24.11 in Japanese pedigrees and then increasingly reported worldwide, with the locus 2p11.1 -q1 2.2 identified in Italian families [2]. Of note, we have excluded a linkage to 5pl5.31-pl5 in three novel unreported families (data unpublished), and an additional locus on 7p15 has been preliminarily suggested in a Chinese pedigree [Xi and Wang, personal communication].