Work

Genetic mosaicism, intrafamilial phenotypic heterogeneity, and molecular defects of a novel missense SLC6A1 mutation associated with epilepsy and ADHD

Year: 2021

Type: article

Study design: Case Report

Source: Experimental Neurology

DOI: 10.1016/j.expneurol.2021.113723

Authors: Sarah Poliquin, Inna Hughes, Wangzhen Shen, Felicia Mermer, Juexin Wang, Taralynn Mack, Dong Xu, Jing-Qiong Kang

Institutions: University of Rochester Medicine, Vanderbilt University Medical Center, University of Missouri

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: Medical Center, University of Rochester, National Institute of General Medical Sciences, National Institute of Neurological Disorders and Stroke, Eunice Kennedy Shriver National Institute of Child Health and Human Development

Awards: G2236375027, G4879887457, G6399140587, Multi-view self-supervised deep learning for biological sequences and beyond

OpenAlex ID: W3157040697

FWCI: 3.788

Cites: 43

Cited by: 30

Related to: 10