Figure 1. Location of the de novo GABA_A receptor β3 and β1 subunit mutations found in LGS and IS patients.

(A) Sequence alignments of human β1-3, α1-6 and γ1-3 GABA_A receptor subunits show the conserved residues altered by the de novo mutations (shown in red). The residues highlighted in grey are conserved across all of the subunits. Secondary structures are represented above the alignments as α-helices (black bar) or β-sheets (arrows). (B) 3D structural model of the GABA_A receptor with the β subunits in blue, α subunits in gray and γ subunit in yellow. GABRB de novo mutations are mapped onto the structure and represented respectively in orange and green for LGS- and IS-associated mutations.