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Article

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

Genes - 15 Sept 2022

Goodspeed Kimberly, Liu Judy S, Nye Kimberly L, Prasad Suyash, Sadhu Chanchal, Tavakkoli Fatemeh, Bilder Deborah A, Minassian Berge A, Bailey Rachel M

Abstract excerpt

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....

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Identifiers

PMID: 36140822
DOI: 10.3390/genes13091655
PMCID: PMC9498415

Genes

SLC13A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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