Work

De novo mutation in SLC25A22 gene: expansion of the clinical and electroencephalographic phenotype

Year: 2021

Type: article

Study design: Case Report

Source: Journal of Neurogenetics

DOI: 10.1080/01677063.2021.1892094

Authors: Antonio Gennaro Nicotera, Daniela Dicanio, Erica Pironti, Maria Bonsignore, Anna Cafeo, Stephanie Efthymiou, Patrizia Mondello, Vincenzo Salpietro, Henry Houlden, Gabriella Di Rosa

Institutions: University of Messina, UCL Queen Square Institute of Neurology, University College London

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: Wellcome Trust

Awards: G1910334207, Synaptopathies: genetics, biophysics and circuit mechanisms of paroxysmal neurological disorders., G605089744

OpenAlex ID: W3149623008

FWCI: 0.42

Cites: 20

Cited by: 7

Related to: 10