Journal Article Review Research Support, Non-U.S. Gov't Epublish 11 citations
PubMed: 36140822 DOI: 10.3390/genes13091655
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
Genes (Basel) 13(9)
Authors: Kimberly Goodspeed, Judy S Liu, Kimberly L Nye, Suyash Prasad, Chanchal Sadhu, Fatemeh Tavakkoli, Deborah A Bilder, Berge A Minassian, Rachel M Bailey
Affiliations
- Division of Child Neurology, Department of Pediatrics, University of Texas Southwestern, Dallas, TX 75390, USA.
- Warren Alpert School of Medicine, Brown University, Providence, RI 02903, USA.
- TESS Research Foundation, Menlo Park, CA 94026, USA.
- Department of Research & Development, Taysha Gene Therapies, Dallas, TX 75247, USA.
- Division of Child & Adolescent Psychiatry, Department of Psychiatry, University of Utah, Salt Lake City, UT 84108, USA.
- Center for Alzheimer's and Neurodegenerative Diseases, University of Texas Southwestern, Dallas, TX 75390, USA.
Abstract
Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. One such example is the epileptic encephalopathy SLC13A5 deficiency disorder, which is caused by loss of function pathogenic variants to the gene SLC13A5 that results in deficiency of the sodium/citrate cotransporter. Patients typically experience seizure onset within the first week of life and have developmental delay and intellectual disability. Current antiseizure medications may reduce seizure frequency, yet more targeted treatments are needed to address the epileptic and non-epileptic features of SLC13A5 deficiency disorder. Gene therapy may offer hope to these patients and better clinical outcomes than current available treatments. Here, we discuss SLC13A5 genetics, natural history, available treatments, potential outcomes and assessments, and considerations for translational medical research for an AAV9-based gene replacement therapy.
MeSH
Genetics, Seizures, Therapeutics, Genes, Genomics, Intellectual Disability, Translational Research, Biomedical, High-Throughput Nucleotide Sequencing
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- Genetic Advancements in Infantile Epileptic Spasms Syndrome and Opportunities for Precision Medicine. Genes (Basel), 2024
- Sleep Abnormalities in SLC13A5 Citrate Transporter Disorder. Genes (Basel), 2024
- Modulation of NMDA receptor signaling and zinc chelation prevent seizure-like events in a zebrafish model of SLC13A5 epilepsy. PLoS Biol, 2025
- Large-scale experimental assessment of variant effects on the structure and function of the citrate transporter SLC13A5. Sci Adv, 2025
- Novel Approaches to Studying SLC13A5 Disease. Metabolites, 2024
- Identification of a novel homozygous nonstop mutation in a Chinese family with epileptic encephalopathy and developmental delay. Front Genet, 2025