Background Pyridoxine-dependent epilepsy is a rare autosomal recessive epileptic
encephalopathy caused by antiquitin (ALDH7A1) deficiency. In spite of adequate seizure …

Introduction: Vitamin B6 dependent epilepsies are a group of treatable diseases (ALDH7A1
deficiency, PNPO deficiency, PLP binding protein deficiency, hyperprolinaemia type II and …

Inherited metabolic diseases usually present a complex clinical picture in which seizures are
one of various neurological manifestations, which include developmental delays/regression …

Seizures are the most acute evident manifestation of central nervous system dysfunction in
neonates. The incidence is higher in very low weight neonates, about 58/100 live births, as …

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

Dear Editor, We read with interest the article titled “Analysis of regular screening of children
in schools for the blind‑Its importance” by Kavitha and Heralgi.[1] The authors have …

Epileptic encephalopathies refer to a group of uncommon disorders usually presenting in
the first days of life secondary to a congenital inborn error of the metabolism. This group of …

Die B-Vitamine stellen eine sehr heterogene Gruppe von Koenzymen dar, die in vielen
neurometabolischen Prozessen eine wichtige Rolle spielen. Einige Vitamin-B …