DO PARASOMNIAS AND NOCTURNAL FRONTAL LOBE EPILEPSY SHARE THE SAME MOLECULAR MECHANISM?
Abstract number :
2.195
Submission category :
Year :
2003
Submission ID :
3790
Source :
www.aesnet.org
Presentation date :
12/6/2003 12:00:00 AM
Published date :
Dec 1, 2003, 06:00 AM
Authors :
Carla Marini, Hilary A. Phillips, Andrew F. Bleasel, Savas S. Papacostas, Lata Vadlamudi, Ernest R. Somerville, Vassos Neocleous, John C. Mulley, Daniel Bertrand, Samuel F. Berkovic Epilepsy Research Institute, Austin and Repatriation Medical Centre, the
Parasomnias have been reported to often co-occur with autosomal dominant nocturnal frontal epilepsy (ADNFLE). It has been suggested that these two paroxysmal sleep-related conditions, may be different manifestations of the same genetic defect. We studied a family, with a newly described nicotinic receptor subunit mutation to test this hypothesis.
A family with nocturnal paroxysmal attacks in six members was studied. Based on clinical semiology, length and frequency of the attacks, these were defined as parasomnias or nocturnal frontal lobe epilepsy (NFLE).
Three family members in two generations had NFLE whereas three others had parasomnias (sleep walking, sleep talking, sleep terrors). Screening of CHRNB2 gene showed a novel mutation in the three NFLE members and in an unaffected grand father. Two available family members with parasomnias tested negative for this mutation and any of the known mutations in CHRNB2 and CHRNA4.
The CHRNB2 mutation segregated with ADNFLE but not with the parasomnias. This is the first finding of a family with both parasomnias and ADNFLE with a known mutation affecting the acetylcholine system. Absence of any known mutations of CHRNA4 and CHRNB2 in individuals with parasomnias in this family suggests that parasomnias and ADNFLE are not different phenotypic expression of the same mutation.
[Supported by: University of Melbourne Scholarship awarded to Carla Marini]