1 (PSAT1) and phosphoserine phosphatase (PSPHD). Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of seizures. There is a very strict window-of-opportunity to prevent developmental delay in patients with infantile and juvenile onset of phenotypes. In this paper, we present an overview of the clinical phenotypes associated with serine deficiency disorders presenting in infancy and childhood ..read more

association with GLUT-1 DS has been shown to be the underlying cause for 10% of early onset absence epilepsy, 5% of Myoclonic astatic epilepsy (MAE) and 1% of idiopathic generalized epilepsies. Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome. Ethanol and caffeine also inhibits GLUT-1 transport activity and may exacerbate seizures. Ketogenic diet remains the most effective treatment in order to meet the energy demand of developing b ..read more

..read more

1 (PSAT1) and phosphoserine phosphatase (PSPHD). Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of seizures. There is a very strict window-of-opportunity to prevent developmental delay in patients with infantile and juvenile onset of phenotypes. In this paper, we present an overview of the clinical phenotypes associated with serine deficiency disorders presenting in infancy and childhood ..read more

association with GLUT-1 DS has been shown to be the underlying cause for 10% of early onset absence epilepsy, 5% of Myoclonic astatic epilepsy (MAE) and 1% of idiopathic generalized epilepsies. Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome. Ethanol and caffeine also inhibits GLUT-1 transport activity and may exacerbate seizures. Ketogenic diet remains the most effective treatment in order to meet the energy demand of developing b ..read more

..read more

1 (PSAT1) and phosphoserine phosphatase (PSPHD). Prompt recognition of affected patients is important, since serine deficiency disorders are treatable causes of seizures. There is a very strict window-of-opportunity to prevent developmental delay in patients with infantile and juvenile onset of phenotypes. In this paper, we present an overview of the clinical phenotypes associated with serine deficiency disorders presenting in infancy and childhood ..read more

association with GLUT-1 DS has been shown to be the underlying cause for 10% of early onset absence epilepsy, 5% of Myoclonic astatic epilepsy (MAE) and 1% of idiopathic generalized epilepsies. Seizures are often remained refractory despite the treatment with a number of antiepileptic medications. Valproate and benzodiazepines are relatively contraindicated for the treatment of seizures in this syndrome. Ethanol and caffeine also inhibits GLUT-1 transport activity and may exacerbate seizures. Ketogenic diet remains the most effective treatment in order to meet the energy demand of developing b ..read more

..read more