NovelNALCNvariant: altered respiratory and circadian rhythm, anesthetic sensitivity

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

A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm

(2016) Moran Gal et al.   European Journal of Medical Genetics

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

(2016) Ryoko Fukai et al.   JOURNAL OF HUMAN GENETICS

Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone

(2016) Mert Karakaya et al.   NEUROPEDIATRICS

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 Conserved Bicycle Model for Circadian Clock Control of Membrane Excitability

(2015) Matthieu Flourakis et al.   CELL

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

(2015) Kyota Aoyagi et al.   HUMAN MUTATION

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

Recessive truncatingNALCNmutation in infantile neuroaxonal dystrophy with facial dysmorphism

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

MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

(2013) Kristoffer Haugarvoll et al.   Orphanet Journal of Rare Diseases

Sodium Leak Channels in Neuronal Excitability and Rhythmic Behaviors

(2011) Dejian Ren   NEURON

A Sodium Leak Current Regulates Pacemaker Activity of Adult Central Pattern Generator Neurons in Lymnaea Stagnalis

(2011) Tom Z. Lu 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

Raphe Neurons Stimulate Respiratory Circuit Activity by Multiple Mechanisms via Endogenously Released Serotonin and Substance P

(2009) K. Ptak et al.   JOURNAL OF NEUROSCIENCE

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

(2008) Boxun Lu et al.   NATURE