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Article

Developmental phenotype and quality of life in SLC13A5 citrate transporter disorder.

Developmental medicine and child neurology - 1 Jul 2025

Ozlu Can, Adams Raegan M, Solidum Rayann M, Cooper Sydney, Best Carrie R, Elacio Jennifer, Kavanaugh Brian C, Spelbrink Emily M, Brown Tanya L, Nye Kimberly, Liu Judy S, Bailey Rachel M, Goodspeed Kimberly, Porter Brenda E

Abstract excerpt

AIM: To describe the neurodevelopment and quality of life in SLC13A5 (solute carrier family 13 member 5) citrate transporter disorder (developmental and epileptic encephalopathy 25, DEE25), a rare genetic early infantile epileptic encephalopathy caused by deficiency of a sodium-citrate transporter, characterized by heavy seizure burden in the neonatal period. METHOD: We analyzed longitudinal neurodevelopmental...

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PMID: 39710583
DOI: 10.1111/dmcn.16218

Genes

SLC13A5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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