Article
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2).
Metabolic brain disease - 1 Jun 2018
Obeid Tasneem, Hamzeh Abdul Rezzak, Saif Fatima, Nair Pratibha, Mohamed Madiha, Al-Ali Mahmoud Taleb, Bastaki Fatma
Abstract excerpt
The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80 in a Palestinian-Emirati patient suffering infantile hypotonia with psychomotor retardation and characteristic facies. This mutation was detected by whole exome sequencing and confirmed using Sanger...
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