Researchers at University College and Great Ormond Street Hospital for Children, London, and other centers in the UK and Europe investigated the genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (PDE) by measurement of urinary alpha-aminoadipic semialdehyde (a-AASA) concentration and mutational analysis of the ALDH7A1 gene that encodes antiquitin
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic enceph...
peer reviewedPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to ...
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogen...
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a posit...
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a posit...
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which e...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 ge...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 ge...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the...
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency ...
Contains fulltext : 70829.pdf (publisher's version ) (Open Access
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and ...
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency ...
Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause py...
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic enceph...
peer reviewedPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to ...
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogen...
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a posit...
Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a posit...
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which e...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 ge...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 ge...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disease caused by mutations in the...
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency ...
Contains fulltext : 70829.pdf (publisher's version ) (Open Access
OBJECTIVE To investigate the role of intragenic deletions of ALDH7A1 in patients with clinical and ...
Pyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to a deficiency ...
Recently, alpha-aminoadipic semialdehyde (alpha-AASA) dehydrogenase deficiency was shown to cause py...
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada...
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and epileptic enceph...
peer reviewedPyridoxine-dependent epilepsy (PDE-ALDH7A1) is an autosomal recessive condition due to ...
We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogen...
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