frameshift variants impair GABA receptor proteostasis.

The gamma-aminobutyric acid type A receptor (GABAR) is the most common inhibitory neurotransmitter-gated ion channel in the central nervous system. Pathogenic variants in genes encoding GABAR subunits can cause receptor dysfunction and lead to genetic epilepsy. Frameshift variants in these genes can result in a premature termination codon, producing truncated receptor subunit variants.

SAGE & THYME: a model for training health and social care professionals in patient-focussed support.

Objective: To develop a model for addressing the emotional concerns of patients or their caregivers; to teach the model in a three-hour workshop and to assess the impact of that training on a wide range of health and social care staff.

Methods: A multi-specialty team, including a cancer patient, developed a model based on the evidence relating to emotional support and communication skills. The model (SAGE & THYME) consists of nine steps (see Box 1).