Thelansis

 SLC13A5 deficiency is a rare autosomal recessive disorder caused by mutations in the sodium-coupled citrate transporter gene SLC13A5. It is characterized by infantile seizures and neurodevelopmental delays. Patients with SLC13A5 citrate transporter disorder are initially identified by the multiple types of seizures that begin within the first week of life. This rare disease is due to changes (mutations) in the SLC13A5 gene (solute carrier family 13, member 5). Seizures begin within a few days of birth, which are often refractory to medications and most patients remain on anti-seizure medications throughout life. Additional symptoms include limited ability to speak, slow motor development including problems standing or walking independently, as well as abnormalities in tooth enamel. Problems with tone are also reported with chronic low tone but also periodic episodes of body stiffening and post stiffening weakness. Siblings with the same genetic mutation show differences in the sev...

 SLC13A5 deficiency is a rare autosomal recessive disorder caused by mutations in the sodium-coupled citrate transporter gene SLC13A5. It is characterized by infantile seizures and neurodevelopmental delays. Patients with SLC13A5 citrate transporter disorder are initially identified by the multiple types of seizures that begin within the first week of life. This rare disease is due to changes (mutations) in the SLC13A5 gene (solute carrier family 13, member 5). Seizures begin within a few days of birth, which are often refractory to medications and most patients remain on anti-seizure medications throughout life. Additional symptoms include limited ability to speak, slow motor development including problems standing or walking independently, as well as abnormalities in tooth enamel. Problems with tone are also reported with chronic low tone but also periodic episodes of body stiffening and post stiffening weakness. Siblings with the same genetic mutation show differences in the sev...