A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

Abstract

Benign Adult Familial Myoclonic Epilepsy (BAFME) is an autosomal dominant disorder characterized by adult-onset cortical tremor or action myoclonus predominantly in the upper limbs, and generalized seizures. We investigated a Thai BAFME family. Clinical and electrophysiological studies revealed that 13 were affected with BAFME. There were a total of 24 individuals studied. Genetic analysis by genome-wide linkage study (GWLS) was performed using 400 microsatellite markers and excluded linkage of the previous BAFME loci, 8q23.3-q24.1, and 2p11.1-q12.2. GWLS showed that the disease-associated region in our Thai family was linked to a newly identified locus on chromosome 3q26.32-3q28. This locus represents the fourth chromosomal region for BAFME.

Genetic analysis of a Chinese family provides further evidence for linkage of familial cortical myoclonic tremor with epilepsy to 5p15.31-p15

“…[5][6][7] In the recent years, a number of loci related to FCMTE at 5p15.31-p15, 3q26.32-3q28 and 10p15, among other sites using subjects in France, Thailand and China, have also been discovered. [8][9][10] In the present study, we selected STR polymorphism markers from the chromosome 5 segments reported at home and abroad, and performed linkage analysis.…”

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

“…A third disease locus (FAME3) was mapped to chromosome 5p15.31-5p15.1 in a single large French family (Depienne et al 2010), and more recently, a fourth disease locus was reported on chromosome 3q26.32-3q28 (FAME4) in a Thai family (Yeetong et al 2013). In addition to this, a consanguineous Egyptian family with features of FAME has been reported to have a homozygous mutation in the CNTN2 gene on chromosome 1q32 (FAME5) (Stogmann et al 2013).…”

Altered intrinsic brain activity in patients with familial cortical myoclonic tremor and epilepsy: An amplitude of low-frequency fluctuation study

“…2a, b, and df). FCMTE studies including several genealogies have presented evidence of a sensorimotor origin for tremulous movements [1,[3][4][5][6][7]. Meanwhile, electromyography (EMG)-fMRI and neurophysiological studies have demonstrated that the tremulous movements in FCMTE patients may be correlated with the activity in the sensorimotor cortex [14,26].…”

“…Four autosomal dominant inherited loci have been reported, including 8q23.3-q24. 13 (Online Mendelian Inheritance in Man, OMIM: 601068), 2p11.1-q12.2 (OMIM: 607876), 5p15.31-p15.1 (OMIM: 613608) and 3q26.32-3q28 [3][4][5][6]. In parallel, one autosomal recessive inherited locus was linked to 1q31.3-32.2 [2].…”

“…However, only one candidate causative gene, CNTN2, has been identified in autosomal recessive FCMTE [2]. No causative gene has been identified in autosomal dominant FCMTE [3][4][5][6][7]. Thus far, the pathophysiology of this condition remains speculative.…”