Journal article

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

Toshiyuki Yamamoto, Keiko Shimojima, Noriko Sangu, Yuta Komoike, Atsushi Ishii, Shinpei Abe, Shintaro Yamashita, Katsumi Imai, Tetsuo Kubota, Tatsuya Fukasawa, Tohru Okanishi, Hideo Enoki, Takuya Tanabe, Akira Saito, Toru Furukawa, Toshiaki Shimizu, Carol J Milligan, Steven Petrou, Sarah E Heron, Leanne M Dibbens Show all



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 involvement of genes other than PRRT2. In this study, we performed whole exome sequencing analysis for a large family affected with PRRT2-unrelated BPEI. We identified a non-synonymous single nucleotide variation (SNV) in the voltage-sensitive chloride channel 6 gene (CLCN6). A cohort study of 48 BPEI patients without PRRT2 mutations revealed a different CLCN6 SNV in a patient, his sibling and his father wh..

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Awarded by Foundation of Synapse and Neurocircuit Pathology

Awarded by Japan Society for the Promotion of Science (JSPS)

Awarded by Grants-in-Aid for Scientific Research

Funding Acknowledgements

This study was partially supported by a Grant-in-Aid for Scientific Research on Innovated Areas "Foundation of Synapse and Neurocircuit Pathology" (23110534); a Grant-in-Aid for scientific research and a Grant-in-Aid of Health Labor Sciences Research Grants from the Ministry of Health, Labor and Welfare, Japan; a Grant from the Mother and Child Health Foundation in Japan; and a Grant from Kawano Masanori Memorial Public Interest Incorporated Foundation for Promotion of Pediatrics (T.Y.). This study was partially supported by a Grant-in-Aid for Young Scientists (B) (24791090), Japan Society for the Promotion of Science (JSPS), a Grant from the Japan Epilepsy Research Foundation (JERF), and a Grant from Kanae Foundation for the promotion of Medical Science in Japan (K.S.). The funding agencies had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.