Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13162
Abstract: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes… read more here.
Keywords: novel nalcn; ihprf1 syndrome; biallelic truncating; mutations nalcn ... See more keywords
A Novel NALCN Homozygote Variant in Non-related Infants with IHPRF1 Syndrome: A Report of 2 Cases
Sign Up to like & getrecommendations! Published in 2023 at "Iranian Journal of Pediatrics"
DOI: 10.5812/ijp-134610
Abstract: 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 of rhythmic behaviors. Infantile hypotonia with psychomotor retardation and… read more here.
Keywords: report; variant; ihprf1 syndrome; homozygote ... See more keywords