Current knowledge of SLC6A1-related neurodevelopmental disorders

Goodspeed, Kimberly; Pérez‐Palma, Eduardo; Iqbal, Sumaiya; D. Cooper, Dominique; Scimemi, Annalisa; M. Johannesen, Katrine; Stefanski, Arthur; Demarest, Scott; L. Helbig, Katherine; Kang, Jing‐Qiong; C. Shaffo, Frances; Prentice, Brandon; A. Brownstein, Catherine; Lim, Byungchan; Helbig, Ingo; de los Reyes, Emily; McKnight, Dianalee; Crunelli, Vincenzo; J. Campbell, Arthur; S. Møller, Rikke; Freed, Amber; Lal, Dennis

doi:10.1093/braincomms/fcaa170

Public

Current knowledge of SLC6A1-related neurodevelopmental disorders

Published in Brain Communications • Jan 1, 2020

Authors:

Kimberly Goodspeed

Eduardo Pérez‐Palma

Sumaiya Iqbal

Abstract

Advances in gene discovery have identified genetic variants in the solute carrier family 6 member 1 gene as a monogenic cause of neurodevelopmental disorders, including epilepsy with myoclonic atonic seizures, autism spectrum disorder and intellectual disability. The solute carrier family 6 member 1...

Subject

Current (fluid)

Psychology

Medicine

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