case_images: PMC8667173_01
case_images: Domain organization and evolutionary conservation of the SHANK1 protein. Top, the alignment of N-terminal regions of H. sapiens SHANK1 and SHANK3 proteins, and SHANK1 homologs from selected species (N = 7, selected for maximal divergence), and the mutation site (Gly126) is indicated by a box and a dotted line. Below, the domain organization of SHANK1 protein (NTD, N-terminal domain; ANK, ankyrin repeat region, SH3 domain; HRS, Homer recognition site; SAM, sterile alpha motif (oligomerization site). Homology modeled region marked by green bar. Bottom, the conservation plot for the H. sapiens SHANK1 protein. Dots, % of residue identical to H. sapiens (excluding deletions) at a given position in the multiple sequence alignment of homologous proteins (N = 25), line, % of deletions at a given position in the same alignment. Green dots/lines denote the modeled region. Below, a close:in view of the conservation plot for the N-terminal domain fragment:mutation site (Gly126) marked in red.
case_images: fgene-12-735292-g001.jpg
case_images: PMC8667173_01_fgene-12-735292-g001.jpg
case_images: F1
case_images: The EEG showed generalized paroxysmal changes with slow spike-and-wave complexes (<3 Hz, Supplementary Figure S1).