Background Congenital contractures of the limbs and face, hypotonia, and developmental
delay (CLIFAHDD) syndrome (OMIM# 616266) is an autosomal dominant hereditary …

Background The NALCN encodes a sodium ion leak channel that regulates nerve-resting
conductance and excitability. NALCN variants are associated with two neurodevelopmental …

The article presents a study related to genetic variants in Sodium leak channel nonselective
(NALCN) associated with congenital contractures of the limbs and face, hypotonia, and …

New presentation of CLIFAHDD syndrome with a novel variant in NALCN gene: A report of a
rare case - PMC Back to Top Skip to main content NIH NLM Logo Access keys NCBI …

Freeman-Sheldon syndrome, or distal arthrogryposis type 2A (DA2A), is an autosomal-
dominant condition caused by mutations in MYH3 and characterized by multiple congenital …

Introduction: Sodium leak channel, non-selective (NALCN) is an ion channel with an
important function in neuronal excitability. The activity of NALCN is essential in the balance …

The sodium leak channel (NALCN) gene encodes a sodium leak channel that plays an
important role in the regulation of the resting membrane potential and the control of neuronal …

Objective: To perform genotype–phenotype analysis in an infant with congenital
arthrogryposis due to a de novo missense mutation in the NALCN ion channel and explore …

Arthrogryposis is a clinical condition characterized by the presence of congenital
nonprogressive contractures of multiple body parts. Next-generation sequencing has made …

NALCN mutations lead to complex neurodevelopmental syndromes, including infantile
hypotonia with psychomotor retardation and characteristic facies (IHPRF) and congenital …