Article
SLC13A5 citrate transporter disorder epilepsy phenotype.
Epilepsy research - 1 Feb 2026
Ozlu Can, Spelbrink Emily M, Brown Tanya L, Nye Kimberly L, Solidum Rayan M, Cooper Sydney, Best Carrie R, Armstrong Dallas, Liu Judy, Goodspeed Kimberly, Porter Brenda E
Abstract excerpt
The SLC13A5 gene encodes a sodium citrate co-transporter, with loss of function variants causing autosomal recessive developmental and epileptic encephalopathy 25, DEE25. DEE25 is an ultra-rare genetic disorder, known to cause neonatal onset epilepsy as well as later neurocognitive and motor impairments. Here, we characterize the epilepsy phenotype from 30 children and adults enrolled in a prospective natural...
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