Variant: rs121912707 

    present in Gene: ALDH7A1
    present in Chromosome: 5
    Position on Chromosome: 126552059
    Alleles of this Variant: C/G

rs121912707 in ALDH7A1 gene and EPILEPSY, PYRIDOXINE-DEPENDENT PMID 23022070 2012 Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.

PMID 22784480 2012 Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

PMID 19128417 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PMID 23054014 2013 Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.

PMID 20370816 2010 Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

PMID 23430810 2013 Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.

PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PMID 22371912 2012 Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

PMID 26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.

rs121912707 in ALDH7A1 gene and Seizures PMID 16491085 2006 Mutations in antiquitin in individuals with pyridoxine-dependent seizures.

PMID 17068770 2007 Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.

PMID 19128417 2009 Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.

PMID 20370816 2010 Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.

PMID 22784480 2012 Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.

PMID 22371912 2012 Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.

PMID 29056246 2017 Diagnostic Yield From 339 Epilepsy Patients Screened on a Clinical Gene Panel.

PMID 26224730 2015 Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.