A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

A new intellectual disability syndrome caused byCTNNB1haploinsufficiency

(2014) Estelle Dubruc et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum

(2014) Alma Kuechler et al.   HUMAN GENETICS

Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features

(2014) Valter Tucci et al.   JOURNAL OF CLINICAL INVESTIGATION

The impact of human hyperekplexia mutations on glycine receptor structure and function

(2014) Anna Bode et al.   Molecular Brain

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

(2013) R. H. Thomas et al.   BRAIN

Novel β-catenin target genes identified in thalamic neurons encode modulators of neuronal excitability

(2012) Marta B Wisniewska et al.   BMC GENOMICS

GSK3 and β-catenin determines functional expression of sodium channels at the axon initial segment

(2012) Mónica Tapia et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability

(2012) Joep de Ligt et al.   NEW ENGLAND JOURNAL OF MEDICINE

Novel Mutation of GLRA1 in Omani Families With Hyperekplexia and Mild Mental Retardation

(2012) Amna Mohammed Al-Futaisi et al.   PEDIATRIC NEUROLOGY

Role of  -Catenin and TCF/LEF Family Members in Transcriptional Activity of HIV in Astrocytes

(2011) S. D. Narasipura et al.   JOURNAL OF VIROLOGY

The dynamic role of beta-catenin in synaptic plasticity

(2011) Kimberly A. Maguschak et al.   NEUROPHARMACOLOGY

Action potential generation requires a high sodium channel density in the axon initial segment

(2008) Maarten H P Kole et al.   NATURE NEUROSCIENCE