Figure 2. Significant clustering of pathogenic LGI1 mutations in the leucine-rich repeat (LRR) domain.

(A) Mutation density per nucleotide within each exon. Blue bars represent truncation mutations, red bars represent missense mutations, and green bars represent total mutations. (B) A sliding window analysis was performed on the sequence length of LGI1 mRNA amplified by the reported sequencing primers (1,823 nucleotides). A window size of 118 bp (median size of exons in LGI1) was used and the maximum number of mutations observed per window was 9 (p = 0.026). EPTP = epitempin.