OBJECTIVE: To examine the relationship between genotype and phenotype in idiopathic generalized epilepsies (IGEs) using a novel approach that focuses on seizure type rather than syndrome. METHODS: The authors evaluated whether the genetic effects on myoclonic seizures differ from the genetic effects on absence seizures. For this purpose, they studied 34 families containing 2 or more members with IGEs and assessed whether the number of families concordant for seizure type exceeded that expected by chance. The authors performed a similar analysis to examine the genetic contributions to juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and childhood absence epilepsy (CAE). RESULTS: The observed number of families concordant for seizure type (myoclonic, absence, or both) was greater than expected (20 vs 7.51; p < 0.0001). The observed number of families concordant for syndrome was greater than expected when JME was compared with absence epilepsies (JAE+CAE) (17 vs 11.9; p < 0.012) but not when JAE was compared with CAE (8 vs 6.82; p = 0.516). CONCLUSIONS: These results provide evidence for distinct genetic effects on absence and myoclonic seizures, suggesting that examining the two seizure types separately would be useful in linkage studies of idiopathic generalized epilepsies. The approach presented here can also be used to discover other clinical features that could direct division of epilepsies into groups likely to share susceptibility genes.
OBJECTIVE: To examine the relationship between genotype and phenotype in idiopathic generalized epilepsies (IGEs) using a novel approach that focuses on seizure type rather than syndrome. METHODS: The authors evaluated whether the genetic effects on myoclonic seizures differ from the genetic effects on absence seizures. For this purpose, they studied 34 families containing 2 or more members with IGEs and assessed whether the number of families concordant for seizure type exceeded that expected by chance. The authors performed a similar analysis to examine the genetic contributions to juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and childhood absence epilepsy (CAE). RESULTS: The observed number of families concordant for seizure type (myoclonic, absence, or both) was greater than expected (20 vs 7.51; p < 0.0001). The observed number of families concordant for syndrome was greater than expected when JME was compared with absence epilepsies (JAE+CAE) (17 vs 11.9; p < 0.012) but not when JAE was compared with CAE (8 vs 6.82; p = 0.516). CONCLUSIONS: These results provide evidence for distinct genetic effects on absence and myoclonic seizures, suggesting that examining the two seizure types separately would be useful in linkage studies of idiopathic generalized epilepsies. The approach presented here can also be used to discover other clinical features that could direct division of epilepsies into groups likely to share susceptibility genes.
Authors: R H Wallace; C Marini; S Petrou; L A Harkin; D N Bowser; R G Panchal; D A Williams; G R Sutherland; J C Mulley; I E Scheffer; S F Berkovic Journal: Nat Genet Date: 2001-05 Impact factor: 38.330
Authors: Karsten Haug; Maike Warnstedt; Alexi K Alekov; Thomas Sander; Alfredo Ramírez; Barbara Poser; Snezana Maljevic; Simon Hebeisen; Christian Kubisch; Johannes Rebstock; Steve Horvath; Kerstin Hallmann; Joern S Dullinger; Birgit Rau; Fritz Haverkamp; Stefan Beyenburg; Herbert Schulz; Dieter Janz; Bernd Giese; Gerhard Müller-Newen; Peter Propping; Christian E Elger; Christoph Fahlke; Holger Lerche; Armin Heils Journal: Nat Genet Date: 2003-03-03 Impact factor: 38.330
Authors: Melodie Rose Winawer; Daniel Rabinowitz; Christie Barker-Cummings; Mark L Scheuer; Timothy A Pedley; W Allen Hauser; Ruth Ottman Journal: Epilepsia Date: 2003-09 Impact factor: 5.864
Authors: R H Wallace; D W Wang; R Singh; I E Scheffer; A L George; H A Phillips; K Saar; A Reis; E W Johnson; G R Sutherland; S F Berkovic; J C Mulley Journal: Nat Genet Date: 1998-08 Impact factor: 38.330
Authors: M R Winawer; C Marini; B E Grinton; D Rabinowitz; S F Berkovic; I E Scheffer; R Ottman Journal: Neurology Date: 2005-08-23 Impact factor: 9.910
Authors: Deb K Pal; Martina Durner; Irene Klotz; Elisa Dicker; Shlomo Shinnar; Stanley Resor; Jeffrey Cohen; Cynthia Harden; Solomon L Moshé; Karen Ballaban-Gill; Edward B Bromfield; David A Greenberg Journal: Brain Dev Date: 2006-01-18 Impact factor: 1.961
Authors: Peter Kinirons; Daniel Rabinowitz; Micheline Gravel; James Long; Melodie Winawer; Geneviève Sénéchal; Ruth Ottman; Patrick Cossette Journal: Epilepsy Res Date: 2008-08-23 Impact factor: 3.045