Fig. 1

Physiological features of IER and linkage analysis of Ier. a, b Representative EEG (a, b) and seizure sequences (a). The seizures were originated 7/12 in the amygdala (1), 4/12 in the hippocampus (2), and 1/12 in the cortex (3) (n = 12, 10 M IERs). Arrows indicate the initiation of each seizure in the EEG of b. c HE staining of retinal sections of indicated genotypes at PD20. ONL Outer nuclear layer, OPL outer plexiform layer, INL inner nuclear layer, IPL inner plexiform layer, RGL Retinal ganglion cell layer. d Mapping of Ier. (WKAH × IER) F1 × IER backcross and (WKY × IER) F1 × IER backcross used to genetic linkage and haplotype analysis. Marks represent rats exhibiting (+) and not exhibiting (−) retinal dysgenesis (RDG) and hippocampal microdysgenesis (MDG), respectively. White boxes represent homozygosity for the Ier allele, while black boxes highlight heterozygosity for the wild type (WKAH/WKY) allele. The genome region spanning D8Mhos11 and D8Mhos6 was identified as the responsible genomic region for Ier, which is highlighted by the blue bar. e Immunoblot analysis to estimate DSCAML1 protein expression in the hippocampus of WT, heterozygous (Het) and homozygous (IER) rats at PD20. f Immunohistochemical staining of DSCAML1 in the hippocampus of PD20 wild type littermates and IER. Nuclei are visualized with DAPI. g Schematic picture for DSCAML1 protein. Asterisk indicates the position of the one base change in IER