PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.

@article{Scheffer2012PRRT2PS,
  title={PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures.},
  author={Ingrid E. Scheffer and Bronwyn E Grinton and Sarah E. Heron and Sara Kivity and Zaid Afawi and Xenia Iona and Hadassa Goldberg-Stern and Maria Kinali and Ian Andrews and Renzo Guerrini and Carla Marini and Lynette Grant Sadleir and Samuel F. Berkovic and Leanne M. Dibbens},
  journal={Neurology},
  year={2012},
  volume={79 21},
  pages={2104-8}
}
OBJECTIVE Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures beginning at about 6 months of age. Mutations in PRRT2, encoding the proline-rich transmembrane protein 2 gene, have recently been identified in the majority of families with BFIE and the associated syndrome of infantile convulsions and choreoathetosis (ICCA). We asked whether the phenotypic spectrum of PRRT2 was broader than initially recognized by studying patients… CONTINUE READING
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