Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

(2016) Asbjørg Stray-Pedersen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in UNC80, Encoding Part of the UNC79-UNC80-NALCN Channel Complex, Cause Autosomal-Recessive Severe Infantile Encephalopathy

(2016) Hanan E. Shamseldin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Phenotypic evolution of UNC80 loss of function

(2016) Elise Valkanas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

UNC80mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channelNALCN

(2015) Yonatan Perez et al.   JOURNAL OF MEDICAL GENETICS

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

UNC79 and UNC80, Putative Auxiliary Subunits of the NARROW ABDOMEN Ion Channel, Are Indispensable for Robust Circadian Locomotor Rhythms in Drosophila

(2013) Bridget C. Lear et al.   PLoS One

Extracellular Calcium Controls Background Current and Neuronal Excitability via an UNC79-UNC80-NALCN Cation Channel Complex

(2010) Boxun Lu et al.   NEURON

Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80

(2008) Boxun Lu et al.   NATURE

Genetic analysis of crawling and swimming locomotory patterns in C. elegans

(2008) J. T. Pierce-Shimomura et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Putative Cation Channel, NCA-1, and a Novel Protein, UNC-80, Transmit Neuronal Activity in C. elegans

(2008) Edward Yeh et al.   PLOS BIOLOGY