De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
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Title
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia
Authors
Keywords
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Journal
JOURNAL OF HUMAN GENETICS
Volume 61, Issue 5, Pages 451-455
Publisher
Springer Nature
Online
2016-01-14
DOI
10.1038/jhg.2015.163
References
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Related references
Note: Only part of the references are listed.- De Novo Mutations in NALCN Cause a Syndrome Characterized by Congenital Contractures of the Limbs and Face, Hypotonia, and Developmental Delay
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- A Gain-of-Function Mutation inNALCNin a Child with Intellectual Disability, Ataxia, and Arthrogryposis
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- A case of autism spectrum disorder arising from a de novo missense mutation in POGZ
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- 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
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- (2012) Jian Zhang et al. NATURE
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- (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
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