Condition: EPILEPSY, PYRIDOXINE-DEPENDENT
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.
PMID 26101365 2015 Case Report: Intravenous and Oral Pyridoxine Trial for Diagnosis of Pyridoxine-Dependent Epilepsy.
PMID 18717709 2009 Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
PMID 26232297 2015 First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
PMID 23350806 2013 Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
PMID 27438048 2016 Pyridoxine-dependent epilepsy: report on three families with neuropathology.
PMID 24122892 2014 Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
PMID 17721876 2007 "An intriguing ""silent"" mutation and a founder effect in antiquitin (ALDH7A1)."
PMID 20814824 2010 The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
PMID 20554659 2010 Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
PMID 22529283 2012 Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.