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Article

Resolution of<i>SLC6A1</i>variable expressivity in a multi-generational family using deep clinical phenotyping and<i>Drosophila</i>models

2024-09-28

Abstract excerpt

<h4>Purpose</h4> 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 disorders (NDDs), however, the molecular mechanism underlying the variable...

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Literature Corpus work
fe30f2d5-453b-5596-8d38-98af6ba8d16c
DOI
10.1101/2024.09.27.24314092
Open publication

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Resolution of<i>SLC6A1</i>variable expressivity in a multi-generational family using deep clinical phenotyping and<i>Drosophila</i>modelsDOI 10.1101/2024.09.27.24314092
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