Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.

@article{Marini2003ChildhoodAE,
  title={Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation.},
  author={Carla Marini and Louise A. Harkin and Robyn H. Wallace and John C. Mulley and Ingrid E. Scheffer and Samuel F. Berkovic},
  journal={Brain : a journal of neurology},
  year={2003},
  volume={126 Pt 1},
  pages={230-40}
}
Although several genes for idiopathic epilepsies from families with simple Mendelian inheritance have been found, genes for the common idiopathic generalized epilepsies, where inheritance is complex, presently are elusive. We studied a large family with epilepsy where the two main phenotypes were childhood absence epilepsy (CAE) and febrile seizures (FS), which offered a special opportunity to identify epilepsy genes. A total of 35 family members had seizures over four generations. The… CONTINUE READING

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Evidence for linkage of juvenile myoclonic epilepsy with absence to chromosome 1p [abstract

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