GLRB is the third major gene of effect in hyperekplexia

Pathophysiological Mechanisms of Dominant and Recessive GLRA1 Mutations in Hyperekplexia

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

Stoichiometry and Subunit Arrangement of α1β Glycine Receptors As Determined by Atomic Force Microscopy

(2012) Zhe Yang et al.   BIOCHEMISTRY

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

(2012) Eloisa Carta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Splice-specific Glycine Receptor Binding, Folding, and Phosphorylation of the Scaffolding Protein Gephyrin

(2012) Jens Herweg et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The  1K276E Startle Disease Mutation Reveals Multiple Intermediate States in the Gating of Glycine Receptors

(2012) R. Lape et al.   JOURNAL OF NEUROSCIENCE

De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features

(2011) Gaetan Lesca et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mechanism of action of the insecticides, lindane and fipronil, on glycine receptor chloride channels

(2011) Robiul Islam et al.   BRITISH JOURNAL OF PHARMACOLOGY

Novel mutation in GLRB in a large family with hereditary hyperekplexia

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

A GPHN point mutation leading to molybdenum cofactor deficiency

(2011) J Reiss et al.   CLINICAL GENETICS

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy

(2011) Keiko Shimojima et al.   JOURNAL OF HUMAN GENETICS

Principles of activation and permeation in an anion-selective Cys-loop receptor

(2011) Ryan E. Hibbs et al.   NATURE

β Subunit M2–M3 Loop Conformational Changes Are Uncoupled from α1 β Glycine Receptor Channel Gating: Implications for Human Hereditary Hyperekplexia

(2011) Qiang Shan et al.   PLoS One

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2

(2010) Jochen Reiss et al.   HUMAN MUTATION

Identifying and prioritising epilepsy treatment uncertainties

(2010) R. H. Thomas et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

GABAergic and glycinergic interneuron expression during spinal cord development: Dynamic interplay between inhibition and excitation in the control of ventral network outputs

(2009) Sara Sibilla et al.   PROGRESS IN NEUROBIOLOGY

A balanced chromosomal translocation disruptingARHGEF9is associated with epilepsy, anxiety, aggression, and mental retardation

(2008) Vera M. Kalscheuer et al.   HUMAN MUTATION

The genetics of hyperekplexia: more than startle!

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

Gephyrin: where do we stand, where do we go?

(2008) Jean-Marc Fritschy et al.   TRENDS IN NEUROSCIENCES