|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
GeneticVariation
|
BEFREE |
Missense mutations of Glu427, especially Glu427Gln, account for ~30% of the mutated alleles in PDE patients, and thus Glu427 has been referred to as a mutation hot spot of PDE.
|
31652343 |
2019 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
GeneticVariation
|
BEFREE |
Here, we describe the juvenile onset of epilepsy at the age of 17 years due to antiquitin deficiency in an Indian female with homozygosity for the most prevalent ALDH7A1 missense mutation, c.1279G > C; p.Glu427Gln in exon 14.
|
29401530 |
2018 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
|
26224730 |
2015 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Identification of a novel missense mutation in the ALDH7A1 gene in two unrelated Tunisian families with pyridoxine-dependent epilepsy.
|
23054014 |
2013 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Long-Term Follow-up of a Successfully Treated Case of Congenital Pyridoxine-Dependent Epilepsy.
|
23430810 |
2013 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Clinical and genetic analysis of three Korean children with pyridoxine-dependent epilepsy.
|
22371912 |
2012 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Overexpression of human antiquitin in E. coli: enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
|
22784480 |
2012 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
|
23022070 |
2012 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
|
20370816 |
2010 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
|
19128417 |
2009 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
|
17068770 |
2007 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
CausalMutation
|
CLINVAR |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
|
16491085 |
2006 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
|
16491085 |
2006 |
|
EPILEPSY, PYRIDOXINE-DEPENDENT
|
|
0.820 |
GeneticVariation
|
CLINVAR |
|
|
|