ALDH7A1 deficiency is an epileptic encephalopathy whose seizures respond to treatment
with supraphysiological doses of pyridoxine. It arises as a result of damaging variants in …

Neurodevelopmental disorders are associated with metabolic pathway imbalances;
however, most metabolic measurements are made peripherally, leaving central metabolic …

Pyridoxine‐dependent epilepsy (PDE) was historically defined by a dramatic clinical
response to a trial of pyridoxine and the re‐emergence of seizures after withdrawal of …

Background Pyridoxine-dependent epilepsy (PDE) is a rare seizure disorder usually
presenting with neonatal seizures. Most cases are caused by biallelic pathogenic …

Objective Idiopathic epilepsy (IE) is the most common chronic neurological disease in dogs
and an established natural animal model for human epilepsy types with genetic and …

Background Little is known about pyridoxine-dependent epilepsy due to α-aminoadipic
semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) in adulthood, as the genetic …

Pyridoxine-dependent epilepsy due to mutations in ALDH7A1 (PDH-ALDH7A1) is a highly
treatable developmental and epileptic encephalopathy. Pharmacologic doses of pyridoxine …

Neurodevelopmental disorders are associated with metabolic pathway imbalances;
however, most metabolic measurements are made peripherally, leaving central metabolic …

Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive developmental and
epileptic encephalopathy caused by pathogenic variants in the ALDH7A1 gene (PDE …

The aim of the study was to analyze the molecular mechanisms that determine the possibility
of using vitamin B 6 in clinical practice for the correction of various pathological conditions …