Article
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability.
Archives of Iranian medicine - 1 Dec 2022
Ehtesham Naeim, Mosallaei Meysam, Beheshtian Maryam, Khoshbakht Shahrouz, Fadaee Mahsa, Vazehan Raheleh, Faraji Zonooz Mehrshid, Karimzadeh Parvaneh, Kahrizi Kimia, Najmabadi Hossein
Abstract excerpt
BACKGROUND: Ion channel dysfunction in the brain can lead to impairment of neuronal membranes and generate several neurological diseases, especially neurodevelopmental disorders. METHODS: In this study, we set out to delineate the genotype and phenotype spectrums of 14 Iranian patients from 7 families with intellectual disability (ID) and/or developmental delay (DD) in whom genetic mutations were identified by...
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