SLC25A12

This website provides information on patients with mutations in the SLC25A12gene, including clinical data, molecular data, management and research options.

AGC1 deficiency or aralar deficiency is a syndrome caused by recessive mutations in the SLC25A12gene. It is a multisystem disorder characterized by early onset epilepsy, global developmental delay, muscular hypotonia and feeding difficulties.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the SLC25A12gene.

Judith Jans, PhD, University Medical Center Utrecht, Utrecht, The Netherlands, j.j.m.jans@umcutrecht.nl