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Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
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UNC80 mutation causes a syndrome of hypotonia, severe intellectual disability, dyskinesia and dysmorphism, similar to that caused by mutations in its interacting cation channel NALCN
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A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm
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Mutations in NALCN Cause an Autosomal-Recessive Syndrome with Severe Hypotonia, Speech Impairment, and Cognitive Delay
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Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
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NLF-1 Delivers a Sodium Leak Channel to Regulate Neuronal Excitability and Modulate Rhythmic Locomotion
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Peptide neurotransmitters activate a cation channel complex of NALCN and UNC-80
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Social approach-avoidance behavior of inbred mouse strains towards DBA/2 mice
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