Associated Papers
The role of the PLA2G6 gene in neurodegenerative diseases.
Deng X et al.
Ageing Research Reviews, 2023
Severe central sleep apnea in a child with biallelic variants in NALCN.
Maselli K et al.
Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2022
A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature.
Karimi AH et al.
The Application of Clinical Genetics, 2020
Biallelic mutations in NALCN: Expanding the genotypic and phenotypic spectra of IHPRF1.
Takenouchi T et al.
American Journal of Medical Genetics. Part A, 2018
De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia.
Fukai R et al.
Journal of Human Genetics, 2016
A novel homozygous splice site mutation in NALCN identified in siblings with cachexia, strabismus, severe intellectual disability, epilepsy and abnormal respiratory rhythm.
Gal M et al.
European Journal of Medical Genetics, 2016
De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.
Chong JX et al.
American Journal of Human Genetics, 2015
The sodium leak channel, NALCN, in health and disease.
Cochet-Bissuel M et al.
Frontiers in Cellular Neuroscience, 2014
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism.
Köroğlu Ç et al.
Journal of Medical Genetics, 2013
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