PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 12390967-4 2002 While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by mutations in the sodium channel gene SCN4A. Sodium 226-232 sodium voltage-gated channel alpha subunit 4 Homo sapiens 246-251 12390967-6 2002 The functional consequences of the novel CLCN1 sequence variants were explored by recording chloride currents from human embryonic kidney cells transiently expressing homo- or heterodimeric mutant channels. Chlorides 92-100 chloride voltage-gated channel 1 Homo sapiens 41-46