Single Nucleotide Variations in CLCN6 Identified in Patients with Benign Partial Epilepsies in Infancy and/or Febrile Seizures

Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified in most patients with benign partial epilepsies in infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all patients harbor these PRRT2 mutations, indicating the involvemen...

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Detalles Bibliográficos
Autores principales: Yamamoto, Toshiyuki, Shimojima, Keiko, Sangu, Noriko, Komoike, Yuta, Ishii, Atsushi, Abe, Shinpei, Yamashita, Shintaro, Imai, Katsumi, Kubota, Tetsuo, Fukasawa, Tatsuya, Okanishi, Tohru, Enoki, Hideo, Tanabe, Takuya, Saito, Akira, Furukawa, Toru, Shimizu, Toshiaki, Milligan, Carol J., Petrou, Steven, Heron, Sarah E., Dibbens, Leanne M., Hirose, Shinichi, Okumura, Akihisa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4368117/
https://www.ncbi.nlm.nih.gov/pubmed/25794116
http://dx.doi.org/10.1371/journal.pone.0118946

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