Create issue ticket

8 Possible Causes for Mutation in the SLC13A5 Gene

  • Early Infantile Epileptic Encephalopathy 25

    […] in the SLC13A5 gene.[trdf.co.il] Authors Jenna Klotz, Brenda E Porter, Claire Colas, Avner Schlessinger, and Ana M Pajor Abstract Mutations in the SLC13A5 gene that codes for the Na /citrate cotransporter[molmed.org] Mutation in the SLC13A5 gene leads to early occurrence of epilepsy, developmental delay and tooth dysplasia in children.[sigmaaldrich.com]

  • Kohlschütter-Tönz Syndrome

    (Etiology) Kohlschütter-Tönz Syndrome is caused by mutation(s) in either ROGDI or SLC13A5 gene The condition is inherited in an autosomal recessive manner What are the Signs[dovemed.com] […] in the SLC13A5 gene.[doi.org] It is frequently caused by biallelic mutations in ROGDI. Here, we report on individuals with ROGDI-negative KTZS carrying biallelic SLC13A5 mutations.[pubtransformer.com]

  • Neonatal Seizures

    METHODS: Observational study describing the neuro-imaging findings in eight patients (five families) with mutations in the SLC13A5 gene.[ncbi.nlm.nih.gov]

  • NADH Cytochrome B5 Reductase Deficiency

    […] in the SLC13A5 gene (608305.0001-608305.0003).[findzebra.com] […] in the SLC13A5 gene (608305) on chromosome 17p13.[findzebra.com] […] in the solute carrier family 13 (sodium-dependent citrate transporter), member 5 gene (SLC13A5, 608305.0001) Ehlers-Danlos syndromes (EDS) form a heterogeneous group of inherited[findzebra.com]

  • Early Infantile Epileptic Encephalopathy 13

    Gene Human Gene Mutation Database (HGMD) SLC13A5 SNPedia medical, phenotypic, and genealogical associations of SNPs for SLC13A5 No data available for Polymorphic Variants[genecards.org] Note The disease is caused by mutations affecting the gene represented in this entry.[genecards.org] (PMID: 12445824) Inoue K … Ganapathy V (Biochemical and biophysical research communications 2002) 2 3 4 22 60 Recessive mutations in SLC13A5 result in a loss of citrate transport[genecards.org]

  • Early Infantile Epileptic Encephalopathy 28

    ), caused by mutation in the SLC13A5 gene (608305); EIEE26 (616056), caused by mutation in the KCNB1 gene (600397); EIEE27 (616139), caused by mutation in the GRIN2B gene[ncbi.nlm.nih.gov] […] in the SLC35A2 gene (314375); EIEE23 (615859), caused by mutation in the DOCK7 gene (615730); EIEE24 (615871), caused by mutation in the HCN1 gene (602780); EIEE25 (615905[ncbi.nlm.nih.gov] […] gene (137160); EIEE20 (300868), caused by mutation in the PIGA gene (311770); EIEE21 (615833), caused by mutation in the NECAP1 gene (611623); EIEE22 (300896), caused by mutation[ncbi.nlm.nih.gov]

  • Early Infantile Epileptic Encephalopathy 26

    ({615905}), caused by mutation in the SLC13A5 gene ({608305}); EIEE26 ({616056}), caused by mutation in the KCNB1 gene ({600397}); EIEE27 ({616139}), caused by mutation in[bio2rdf.org] […] in the SLC35A2 gene ({314375}); EIEE23 ({615859}), caused by mutation in the DOCK7 gene ({615730}); EIEE24 ({615871}), caused by mutation in the HCN1 gene ({602780}); EIEE25[bio2rdf.org] 137160}); EIEE20 ({300868}), caused by mutation in the PIGA gene ({311770}); EIEE21 ({615833}), caused by mutation in the NECAP1 gene ({611623}); EIEE22 ({300896}), caused by mutation[bio2rdf.org]

  • Early Infantile Epileptic Encephalopathy 18

    Other collaborations allowed us to contribute to the identification of mutations in the SLC13A5 ( Thevenon et al. 2014 ) or more recently AP3B2 genes ( Assoum et al. 2016)[germaco.net] In addition to EESB, mutations in this gene cause milder forms of epilepsy.[germaco.net] . - Recently, de novo KCNQ2 mutations have been found in several patients with an EOEE ( Weckhuysen et al. 2012 ; Kato et al. 2013 ).[germaco.net]

Further symptoms