Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

@article{Harkin2002TruncationOT,
  title={Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.},
  author={Louise A. Harkin and David N. Bowser and Leanne M. Dibbens and Rita Singh and Fiona L Phillips and Robyn H. Wallace and Michaella C Richards and David A Williams and John C. Mulley and Samuel F. Berkovic and Ingrid E. Scheffer and Steven Petrou},
  journal={American journal of human genetics},
  year={2002},
  volume={70 2},
  pages={530-6}
}
Recent findings from studies of two families have shown that mutations in the GABA(A)-receptor gamma2 subunit are associated with generalized epilepsies and febrile seizures. Here we describe a family that has generalized epilepsy with febrile seizures plus (GEFS(+)), including an individual with severe myoclonic epilepsy of infancy, in whom a third GABA(A)-receptor gamma2-subunit mutation was found. This mutation lies in the intracellular loop between the third and fourth transmembrane domains… CONTINUE READING
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