Interstitial deletion 5q14.3q21.3 associated with lethal epilepsy.

The 5q14.3 deletion syndrome is a heterogeneous disorder with remarkable phenotypic diversity ranging from severe to mild manifestation. In this paper, we report on a patient with 5q14.3 q21.3 deletion who exhibited the severe phenotype and died at 5.5 months. This patient can be classified as having sudden unexplained death in epilepsy (SUDEP) [Tomson et al., 2008]. The deleted region (21.02Mb, Chr.5: 88, 047, 621-109,072,596x1dn), which included MEF2C and EFNA5, was a 16.5Mb sequence that overlapped with previously reported deletions in a patient with the mild phenotype. This study further demonstrated the complexity of clinical cytogenetic correlation of the 5q14.3 deletion. (c) 2015 Wiley Periodicals, Inc.