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Genetic analysis.. (A) The pedigree with myotonia congenital and hypokalemic periodic paralysis type 2. (B) Sanger sequencing revealed a homozygous p.F306S CLCN1 mutation in V: 5 and V: 6, while IV: 2 and VI: 3 carried a heterozygous sequence. There was a heterozygous p.R222W SCN4A mutation in V.7 and VI.3.
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Sanger sequencing validated the two candidate variants in the pedigree (Fig 1B).
Electrophysiological properties of the CLC-1_F306S mutant channel in HEK293T cells.. (A-C) Representative current traces from HEK293T cells expressing WT, CLC-1_F306L and CLC-1_F306S. (D and E) Instantaneous (denoted by an arrow) and steady-state (denoted by a triangle) current-voltage association of CLC-1_F306S and CLC-1_F306L mutant channels compared with the WT channel. (F) Voltage-dependent activation of CLC-1_F306S and CLC-1_F306L mutant channels compared with the WT channel.
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Representative current traces from HEK293T cells expressing WT, CLC-1_F306L and CLC-1_F306S are shown in Fig 2A-2C. The I-V curves of instantaneous currents for CLC-1 channels are presented in Fig 2D. The voltage-dependent activation curves of the WT and mutant channels, calculated from tail currents at -105 mV, are presented in Fig 2F.