Article

A synonymous<i>SLC2A1</i>variant causes familial epilepsy and paroxysmal exercise-induced dyskinesia by creating aberrant mosaic splicing patterns

2025-04-09

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Glucose transporter type-1 deficiency syndrome (GLUT1-DS) arises from variants in the SLC2A1 gene encoding the glucose transporter type-1 (GLUT1). Genetic analysis of a GLUT1-DS family identified a recurrent heterozygous synonymous SLC2A1 variant, adjacent to a 5’ donor splice site (NG_008232.1(NM_006516.4): c.972G>A, NP_006507.2: p.Ser324=). The splice site proximity and fami...

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Literature Corpus work: d3d92b49-00a5-5b99-a995-1e3d3fadb2c6
DOI: 10.1101/2025.04.05.25325007

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