Altered Channel Conductance States and Gating of GABA A Receptors by a Pore Mutation Linked to Dravet Syndrome

Abstract excerpt

Abstract We identified a de novo missense mutation, P302L, in the γ-aminobutyric acid type A (GABA A ) receptor γ2 subunit gene GABRG2 in a patient with Dravet syndrome using targeted next-generation sequencing. The mutation was in the cytoplasmic portion of the transmembrane segment M2 of the γ2 subunit that faces the pore lumen. GABA A receptor α1 and β3 subunits were coexpressed with wild-type (wt) γ2L or...