Log in to save to my catalogue

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a C...

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a C...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10685845

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability

About this item

Full title

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability

Publisher

Tehran: Academy of Medical Sciences of I.R. Iran

Journal title

Archives of Iranian medicine, 2022-12, Vol.25 (12), p.788-797

Language

English

Formats

Publication information

Publisher

Tehran: Academy of Medical Sciences of I.R. Iran

More information

Scope and Contents

Contents

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 develo...

Alternative Titles

Full title

Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10685845

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10685845

Other Identifiers

ISSN

1029-2977

E-ISSN

1735-3947

DOI

10.34172/aim.2022.124

How to access this item