Vitamin B 6 is one of the most central molecules in cells of living organisms. It is a critical co-
factor for a diverse range of biochemical reactions that regulate basic cellular metabolism …

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 …

Purpose: To reach a broad consensus on case definitions, outcomes, and outcome
measures that will ease future study design and facilitate comparison of data from different …

Severe myoclonic epilepsy in infancy (SME) was described by Dravet in 1978 (1). In 1992,
there were at least 192 published cases (2). At present, it is more difficult to give a precise …

Lysine degradation via formation of saccharopine is a pathway confined to the mitochondria.
The second pathway for lysine degradation, the pipecolic acid pathway, is not yet fully …

Neonatal seizures are an important example of an age-specific seizure syndrome.
Compared with seizures at older ages, neonatal seizures differ in etiology, semiology, and …

Neonatal seizures are the most common manifestation of neurological disorders in the
newborn period and an important determinant of outcome. Overall, for babies born at full …

Pyridoxine-dependent epilepsy (PDE) is a severe neonatal seizure disorder and is here
modeled in aldh7a1-/-zebrafish. Mutant larvae display spontaneous.. Pyridoxine-dependent …

Introduction Nodding Syndrome (NS), an unexplained illness characterized by spells of
head bobbing, has been reported in Sudan and Tanzania, perhaps as early as 1962 …