Fig. 1.

Identification and characterization of the NBCe1 Δ65bp mutation. (A) The pedigree. Arrow: proband; squares: men; circles: women; slashes: deceased. Inner symbols: black—pRTA with hemiplegic migraine; gray—migraine with or without aura; dotted—convulsions; white—normal. Symbol borders: white—high-tension glaucoma; hatched—normal-tension glaucoma. −/−: homozygous mutation; +/−: heterozygous mutation; +/+: no mutation; question marks: no history available. (B) Current (I)/voltage (Vm) relationship of the NBCe1A constructs expressed in Xenopus oocytes. The data represent the mean ± SEM (n = 8 for each construct) obtained for wild-type NBCe1A (WT), the Δ65bp mutant (Δ65bp), or the H₂O injected Control (Cont). (C) Confocal images of GFP-tagged wild-type NBCe1A (WT) or the Δ65bp mutant in polarized MDCK cells. Green: GFP fluorescence; red: actin cytoskeletons; xy: front view; xz: side view. Scale bars, 10 μm. (D) The NBCe1B activity in C6 cells, analyzed by cell pH responses to high K⁺ (20 mM) solution. Confocal images of NBCe1B localization are at the bottom. (Scale bars, 10 μm.)