Amy McTague

AAV9-mediated targeting of natural antisense transcript as a novel treatment for Dravet Syndrome

This paper demonstrates the use of AAV9 vectors to deliver AntagoNATs targeting a natural antisense transcript in a DS mouse model, improving survival and reducing seizures.

Gaps in the phenotype descriptions of ultra-rare genetic conditions: review and multi-center consensus reporting guidelines

The paper reviews phenotype reporting in genetic disorders and proposes guidelines to improve clinical relevance.

Genome Sequencing and Comprehensive Rare Variant Analysis of 465 Families with Neurodevelopmental Disorders

This study uses genome sequencing to identify causal variants in families with neurodevelopmental disorders, finding 36% of affected individuals have causal variants and 26% have variants of uncertain significance.

Structural mapping of GABRB3 variants reveals genotype-phenotype correlation

The paper analyzes GABRB3 variants in a cohort of 71 individuals to identify genotype-phenotype correlations, finding associations between variant locations and specific clinical features.

De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy

This study describes 20 individuals with de novo SNAP25 variants, identifying intellectual disability and early-onset epilepsy as core symptoms of SNAP25-DEE, with overlaps with other SNARE complex genes.

Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate

The paper identifies a novel de novo missense variant in GABRA2 associated with EIEE and analyzes structural impacts of seven variants across Cys-loop receptors.