Mutations in the GlyT2 Gene (SLC6A5) Are a Second Major Cause of Startle Disease

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

(2013) S.-K. Chung et al.   JOURNAL OF NEUROSCIENCE

Novel mutation in GLRB in a large family with hereditary hyperekplexia

(2011) M Al-Owain et al.   CLINICAL GENETICS

Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene

(2011) Jennifer L. Gill et al.   NEUROBIOLOGY OF DISEASE

A Glutamine Residue Conserved in the Neurotransmitter:Sodium:Symporters Is Essential for the Interaction of Chloride with the GABA Transporter GAT-1

(2010) Assaf Ben-Yona et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Serotonin receptor 1A–modulated phosphorylation of glycine receptor α3 controls breathing in mice

(2010) Till Manzke et al.   JOURNAL OF CLINICAL INVESTIGATION

pGenTHREADER and pDomTHREADER: new methods for improved protein fold recognition and superfamily discrimination

(2009) Anna Lobley et al.   BIOINFORMATICS

Clonazepam is an effective treatment for hyperekplexia due to a SLC6A5 (GlyT2) mutation

(2009) Mirte J. Bakker et al.   MOVEMENT DISORDERS

Glycine Transporter Dimers

(2008) Ingo Bartholomäus et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Glycine Transporter GlyT2 Controls the Dynamics of Synaptic Vesicle Refilling in Inhibitory Spinal Cord Neurons

(2008) F. Rousseau et al.   JOURNAL OF NEUROSCIENCE

Highly effective SNP-based association mapping and management of recessive defects in livestock

(2008) Carole Charlier et al.   NATURE GENETICS

A Competitive Inhibitor Traps LeuT in an Open-to-Out Conformation

(2008) S. K. Singh et al.   SCIENCE

The meaning of nonsense

(2008) Lukas Stalder et al.   TRENDS IN CELL BIOLOGY

The genetics of hyperekplexia: more than startle!

(2008) Robert J. Harvey et al.   TRENDS IN GENETICS