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FB2026_01
,
released March 12, 2026
This report describes developmental and epileptic encephalopathy 25, with amelogenesis imperfecta (DEE25); this disease is also described as a sub-type of Kohlschutter-Tonz syndrome. DEE25 exhibits autosomal recessive inheritance. The human gene implicated in this disease is SLC13A5, which encodes a sodium-dependent citrate cotransporter. The Drosophila gene Indy is a high-scoring ortholog of DEE25; there are multiple related genes in both human and fly. Multiple genetic reagents have been generated for Indy including RNAi-targeting constructs and alleles caused by insertional mutagenesis.
The human SLC13A5 gene has not been introduced into flies.
Animals carrying homozygous or trans-heterozygous loss-of-function mutations of Indy survive to adulthood; they exhibit bang-sensitivity, a phenotype similar to seizure sensitivity in humans (see FBhh0000268). Using RNAi targeted to different neurons, reduction of Indy expression in vesicular glutamate transporter (VGlut)-expressing neurons, but not other neurotransmitter-specific neurons, results in the bang-sensitive phenotype. Finer mapping of the Indy RNAi phenotypes has identified a very small group of neurons expressing the neuropeptide leucokinin (LK neurons) as a neural locus important for Indy-dependent seizure suppression. Involvement of the TCA cycle in seizure suppression in this and other diseases has been postulated.
A second Drosophila gene involved in citrate metabolism, kdn, also exhibits bang-sensitive phenotypes.
[updated Nov. 2021 by FlyBase; FBrf0222196]
[DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25 WITH AMELOGENESIS IMPERFECTA; DEE25](https://omim.org/entry/615905)
[SOLUTE CARRIER FAMILY 13 (SODIUM-DEPENDENT CITRATE TRANSPORTER), MEMBER 5; SLC13A5](https://omim.org/entry/608305)
Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is an autosomal recessive neurologic disorder characterized by the onset of refractory seizures in early infancy. Most patients present with seizures in the neonatal period, which is often associated with status epilepticus. However, there is phenotypic variability, and some patients have onset of seizures later in infancy. Affected individuals show global developmental delay with intellectual disability and poor speech and communication. The seizures may remit somewhat with age, but there are persistent neurologic symptoms, including ataxia, spasticity, and abnormal involuntary movements. In addition to neurologic deficits, patients also have dental anomalies with amelogenesis imperfecta (summary by Thevenon et al., 2014, pubmed:24995870; Schossig et al., 2017, pubmed: 27600704). [from MIM:615905; 2021.11.09]
The disorder shows phenotypic similarities to Kohlschutter-Tonz syndrome. [from MIM:615905; 2021.11.09]
Developmental and epileptic encephalopathy-25 with amelogenesis imperfecta (DEE25) is caused by homozygous or compound heterozygous mutation in the SLC13A5 gene. [from MIM:615905; 2021.11.09]
SLC13A5 encodes a high-affinity sodium/citrate cotransporter that mediates citrate entry into cells. [Gene Cards, SLC13A5; 21.11.09]
Many to many: multiple related genes in both species.
High-scoring ortholog of human SLC13A5, SLC13A2, and several other related gene in human (multiple related genes in both species). Dmel\Indy shares 38% identity and 58% similarity with SLC13A5.