Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome

(2018) A. Angius et al.   CLINICAL GENETICS

Biallelic UNC80 mutations caused infantile hypotonia with psychomotor retardation and characteristic facies 2 in two Chinese patients with variable phenotypes

(2018) Yunjuan He et al.   GENE

Periodic breathing in patients with NALCN mutations

(2018) Danielle K. Bourque et al.   JOURNAL OF HUMAN GENETICS

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

(2018) Tasneem Obeid et al.   METABOLIC BRAIN DISEASE

NALCN Dysfunction as a Cause of Disordered Respiratory Rhythm With Central Apnea

(2018) Jamie Campbell et al.   PEDIATRICS

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

PYCR2Mutations cause a lethal syndrome of microcephaly and failure to thrive

(2016) Maha S. Zaki et al.   ANNALS OF NEUROLOGY

Ade novomutation in theNALCNgene in an adult patient with cerebellar ataxia associated with intellectual disability and arthrogryposis

(2016) Y. Wang et al.   CLINICAL GENETICS

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

(2016) Daniel Trujillano et al.   EUROPEAN 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

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

Qualimap 2: advanced multi-sample quality control for high-throughput sequencing data

(2015) Konstantin Okonechnikov et al.   BIOINFORMATICS

Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin–Siris and Nicolaides–Baraitser syndromes

(2015) Nuria C. Bramswig 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

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

Jannovar: A Java Library for Exome Annotation

(2014) Marten Jäger et al.   HUMAN MUTATION

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

(2014) T. Zemojtel et al.   Science Translational Medicine

The sodium leak channel, NALCN, in health and disease

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

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

The activity-dependent transcription factor NPAS4 regulates domain-specific inhibition

(2013) Brenda L. Bloodgood et al.   NATURE

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

Exome Sequencing Can Improve Diagnosis and Alter Patient Management

(2012) T. J. Dixon-Salazar et al.   Science Translational Medicine

Npas4 Regulates a Transcriptional Program in CA3 Required for Contextual Memory Formation

(2011) K. Ramamoorthi et al.   SCIENCE

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

(2010) Boxun Lu et al.   NEURON

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease

(2008) Peter N. Robinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Activity-dependent regulation of inhibitory synapse development by Npas4

(2008) Yingxi Lin et al.   NATURE