De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia

De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay

(2015) Jessica X. Chong et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Gain-of-Function Mutation inNALCNin a Child with Intellectual Disability, Ataxia, and Arthrogryposis

(2015) Kyota Aoyagi et al.   HUMAN MUTATION

A case of autism spectrum disorder arising from a de novo missense mutation in POGZ

(2015) Ryoko Fukai et al.   JOURNAL OF HUMAN GENETICS

Selectivity filters and cysteine-rich extracellular loops in voltage-gated sodium, calcium, and NALCN channels

(2015) Robert F. Stephens et al.   Frontiers in Physiology

The sodium leak channel, NALCN, in health and disease

(2014) Maud Cochet-Bissuel et al.   Frontiers in Cellular Neuroscience

Ligand-induced structural changes in the cyclic nucleotide-modulated potassium channel MloK1

(2014) Julia Kowal et al.   Nature Communications

Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay

(2013) Moeenaldeen D. Al-Sayed et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A uniquely adaptable pore is consistent with NALCN being an ion sensor

(2013) Adriano Senatore et al.   Channels

Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism

(2013) Çiğdem Köroğlu et al.   JOURNAL OF MEDICAL GENETICS

Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel

(2013) Kin Y. Mok et al.   MOVEMENT DISORDERS

China must provide education on HIV

(2012) Jian Zhang et al.   NATURE

The crystal structure of a voltage-gated sodium channel

(2011) Jian Payandeh et al.   NATURE

Sodium Leak Channels in Neuronal Excitability and Rhythmic Behaviors

(2011) Dejian Ren   NEURON

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Protein structure prediction on the Web: a case study using the Phyre server

(2009) Lawrence A Kelley et al.   Nature Protocols