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

摘要: Nucleotide alterations in the gene encoding proline-rich transmembrane protein 2 (PRRT2) have been identified most patients with benign partial epilepsies infancy (BPEI)/benign familial infantile epilepsy (BFIE). However, not all harbor these PRRT2 mutations, indicating involvement of genes other than PRRT2. In this study, we performed whole exome sequencing analysis for a large family affected PRRT2-unrelated BPEI. We non-synonymous single nucleotide variation (SNV) voltage-sensitive chloride channel 6 (CLCN6). A cohort study 48 BPEI without mutations revealed different CLCN6 SNV patient, his sibling and father who had history febrile seizures (FS) but Another FS an additional CLCN6. Chloride channels (CLCs) are involved multitude physiologic processes some members CLC linked to inherited diseases. phenotypic correlation has confirmed Although could detect significant biological effects SNVs, further studies should investigate potential variants that may underlie genetic susceptibility convulsive disorders.