Periodic breathing in patients with NALCN mutations

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

NALCN channelopathies

(2016) Eric G. Bend et al.   NEUROLOGY

Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care

(2016) Alison Hamilton et al.   Molecular Genetics & Genomic Medicine

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

Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome

(2015) Martine Tetreault et al.   HUMAN GENETICS

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

(2015) Kyota Aoyagi et al.   HUMAN MUTATION

FORGE Canada Consortium: Outcomes of a 2-Year National Rare-Disease Gene-Discovery Project

(2014) Chandree L. Beaulieu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

(2010) Boxun Lu et al.   NEURON