Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

(2013) Anath C. Lionel et al.   HUMAN MOLECULAR GENETICS

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

GLRB is the third major gene of effect in hyperekplexia

(2012) Seo-Kyung Chung et al.   HUMAN MOLECULAR GENETICS

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

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

A new hyperekplexia family with a recessive frameshift mutation in the GLRA1 gene

(2012) Evelien Zoons et al.   MOVEMENT DISORDERS

An integrated encyclopedia of DNA elements in the human genome

(2012)   NATURE

Novel missense mutations in the glycine receptor β subunit gene (GLRB) in startle disease

(2012) Victoria M. James et al.   NEUROBIOLOGY OF DISEASE

Novel mutation in GLRB in a large family with hereditary hyperekplexia

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

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

(2011) Ryan E. Hibbs et al.   NATURE

Antiglycine-receptor encephalomyelitis with rigidity

(2010) N. Mas et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Recessive hyperekplexia mutations of the glycine receptor α1 subunit affect cell surface integration and stability

(2009) Carmen Villmann et al.   JOURNAL OF NEUROCHEMISTRY

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

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

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

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

PROGRESSIVE ENCEPHALOMYELITIS, RIGIDITY, AND MYOCLONUS: A NOVEL GLYCINE RECEPTOR ANTIBODY

(2008) M. Hutchinson et al.   NEUROLOGY

Native glycine receptor subtypes and their physiological roles

(2008) Joseph W. Lynch   NEUROPHARMACOLOGY

The genetics of hyperekplexia: more than startle!

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