Pyridoxine-dependent epilepsy presents early in life, even in utero. It is usually refractory to
conventional antiepileptic medications and responds only to lifelong pyridoxine …

PURPOSE: Pyridoxine-Dependent Epilepsy (PDE) is a rare autosomal recessive disease
with neonatal seizures resistant to conventional anti-epileptic drugs. This metabolic disease …

Discussion Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive condition
that causes neonatal seizures with an incidence of 1 in 730,000 patients [1, 2]. The condition …

Pyridoxine-dependent seizures are a rare cause of recurrent seizures in the neonatal period
that are resistant to most of the antiepileptic medications, but respond to pyridoxine. There is …

Pyridoxine‐dependent epilepsy (PDE) is a rare autosomal recessive disorder causing
intractable seizures in neonates and infants. PDE patients are typically resistant to anti …

Pyridoxine-dependent epilepsy (PDE) was initially described in 1954 as an antiepileptic
drug (AED) resistant neonatal epileptic encephalopathy which only responds to continuous …

A 15-year-old boy with history of epilepsy and developmental delay was admitted to the
hospital for recurrent seizures. He had history of seizure with fever, predominantly with minor …

Inborn errors of metabolism are a diverse group of genetic disorders including many that
cause neonatal-onset epilepsy such as pyridoxine-dependent epilepsy (PDE). PDE occurs …

Pyridoxine-dependent epilepsy is a rare, autosomal recessive, treatable cause of neonatal
seizures. Genetic testing can confirm mutations in the ALDH7A1 gene, which encodes …

Pyridoxine dependent epilepsy (PDE) is an autosomal recessively inherited disorder. It is
caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding the alpha …