Neonatal seizures constitute the most frequent and distinctive neurological symptom in the
neonatal period. Seizures in the neonatal period differ considerably from those observed …

Antiquitin (ATQ) deficiency is the main cause of pyridoxine dependent epilepsy
characterized by early onset epileptic encephalopathy responsive to large dosages of …

Pyridoxal phosphate is the cofactor for over 100 enzyme-catalysed reactions in the body,
including many involved in the synthesis or catabolism of neurotransmitters. Inadequate …

Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized
by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at …

Seizures are common in neonates, but there is substantial management variability. The
Neonatal Task Force of the International League Against Epilepsy (ILAE) developed …

Aim The long‐term outcome of the Dutch pyridoxine‐dependent epilepsy cohort and
correlations between patient characteristics and follow‐up data were retrospectively studied …

To facilitate clinical research on pyridoxine-dependent seizures (PDS), a rare disease
registry was established for affected patients in the United States and Canada. From 1999 to …

Pyridoxine‐dependent epilepsy (PDE‐ALDH7A1) is an autosomal recessive condition due
to a deficiency of α‐aminoadipic semialdehyde dehydrogenase, which is a key enzyme in …

Background Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-
aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual …

Pyridoxine‐dependent epilepsy is a disorder associated with severe seizures that may be
caused by deficient activity of α‐aminoadipic semialdehyde dehydrogenase, encoded by the …