Fig.1

Genetic and expression analysis of the LGI1^W183R mutation. A Pedigree of the LGI1^W183R variant. (square, male, circles, females; see Additional file for details). B Chromatograms of c.547 T > C within LGI1. (upper, normal sequence; lower, mutant sequence). C Upper, domains within the LGI1 protein: N-cap, LRR, C-cap, and EPTP. The LGI1^W183R mutation maps onto the C-cap domain. Lower, alignment analysis of LGI1 orthologues in different vertebrate species shows the conservation of the W183 residue. D Mapping of the LGI1^W183R mutation on the 3D structure of LGI1. E Brain MRIs of the proband showing normal brain structure (horizontal, coronal, and sagittal views from left to right). F Representative EEG recording from the proband (arrowhead, an epileptiform discharge during the interictal period; left electrodes in the Bipolar Montage. G mRNA levels of LGI1 in HEK cells transfected with LGI1^WT or LGI1^W183R. H Total LGI1 protein in cultures transfected with LGI1^WT or LGI1^W183R. I LGI1 expression in the medium (secreted) and cell lysates of cultures transfected with LGI1^WT or LGI1^W183R. J LGI1 protein levels at annotated time points in HEK cells transfected by LGI1^WT or LGI1^W183R and continuously treated with CHX. K Immunoprecipitation with rabbit anti-Flag antibody followed by western blots using mouse anti-Flag antibody and mouse anti-Flag-ubiquitin show no difference in LGI1 ubiquitination level between the two groups (Flag-LGI1^WT or Flag-LGI1^W183R transfected into HEK cells). See Additional file 4: Table S1 for statistics. **P < 0.01. ***P < 0.001