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Article

Resolving SLC6A1 variable expressivity with deep clinical phenotyping and Drosophila models.

HGG advances - 15 Jan 2026

Jay Kristy L, Gogate Nikhita, Hall Paige I, Ezell Kimberly M, Andrews Jonathan C, Jangam Sharayu V, Pan Hongling, Pham Kelvin, German Ryan, Gomez Vanessa, Jellinek-Russo Emily, Storch Eric A, Yamamoto Shinya, Kanca Oguz, Bellen Hugo J, Dierick Herman A, Cogan Joy D, Phillips John A, Hamid Rizwan, Cassini Thomas, Rives Lynette, Pruthi Sumit, Chen Hua-Chang, Posey Jennifer E, Wangler Michael F

Abstract excerpt

Variants in SLC6A1 result in a rare neurodevelopmental disorder characterized by a variable clinical presentation of symptoms including developmental delay, epilepsy, motor dysfunction, and autism spectrum disorder. SLC6A1 haploinsufficiency has been confirmed as the predominant pathway of SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD); however, the molecular mechanism underlying the variable clinical...

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Identifiers

PMID: 41174879
DOI: 10.1016/j.xhgg.2025.100541
PMCID: PMC12681531

Genes

SLC6A1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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