OBJECTIVE: To determine whether patients with pyridoxine-responsive seizures but normal biomarkers for antiquitin deficiency and normal sequencing of the ALDH7A1 gene may have PNPO mutations. METHODS: We sequenced the PNPO gene in 31 patients who fulfilled the above-mentioned criteria. RESULTS: We were able to identify 11 patients carrying 3 novel mutations of the PNPO gene. In 6 families, a homozygous missense mutation p.Arg225His in exon 7 was identified, while 1 family was compound heterozygous for a novel missense mutation p.Arg141Cys in exon 5 and a deletion c.279_290del in exon 3. Pathogenicity of the respective mutations was proven by absence in 100 control alleles and expression studies in CHO-K1 cell lines. The response to pyrido...
Contains fulltext : 50019.pdf (publisher's version ) (Closed access)We show here t...
Abstract. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes int...
International audiencePyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic di...
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada...
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridox...
In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broaden...
Purpose: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are re...
The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recentl...
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but ...
To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5'-...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 ge...
International audiencePURPOSE: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive dis...
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in ...
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but ...
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in ...
Contains fulltext : 50019.pdf (publisher's version ) (Closed access)We show here t...
Abstract. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes int...
International audiencePyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic di...
Investigators at University Hospital, Zurich, Switzerland, and multiple centers in Europe and Canada...
We report a patient with anti-epileptic treatment refractory neonatal seizures responsive to pyridox...
In recent years, the clinical spectrum of pyridoxine phosphate oxidase (PNPO) deficiency has broaden...
Purpose: Pyridoxine-dependent seizure (PDS) is a rare disorder characterized by seizures that are re...
The rare autosomal recessive disorder pyridoxine 5'-phosphate oxidase (PNPO) deficiency is a recentl...
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but ...
To analyze the clinical and genetic characteristics of Chinese patients with pyridox(am)ine-5'-...
We show here that children with pyridoxine-dependent seizures (PDS) have mutations in the ALDH7A1 ge...
International audiencePURPOSE: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive dis...
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in ...
Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but ...
Vitamin-B6-dependent epilepsies are a heterogenous group of treatable disorders due to mutations in ...
Contains fulltext : 50019.pdf (publisher's version ) (Closed access)We show here t...
Abstract. Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes int...
International audiencePyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive metabolic di...