Dataset Information

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

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.

SUBMITTER: Goodspeed K

PROVIDER: S-EPMC9498415 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature

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SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

Goodspeed Kimberly K Liu Judy S JS Nye Kimberly L KL Prasad Suyash S Sadhu Chanchal C Tavakkoli Fatemeh F Bilder Deborah A DA Minassian Berge A BA Bailey Rachel M RM

Genes 20220915 9

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 deve ...[more]

PMID: 36140822

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Dataset Information

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

Publications

SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.

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