Comprehensive update on Panel for Epilepsy, Metabolic and Brain Development Disorders

Based on the latest scientific findings, the Diagnostic Panel for Epilepsy, Metabolic and Brain Development Disorders was updated.

The gene set for Familial and Idiopathic Epilepsy (EPI01) has been extended, most importantly be adding the genes NPRL2 and NPRL3. Growing knowledge on nocturnal frontal lobe epilepsies and focal epilepsies that are not correlated with time of day show an increasing genetic overlap, leading to the integration of the relevant genes into this gene set.

Several new gene sets are now available for metabolic diseases. Among them, for instance, a gene set for the most frequent cause of metabolic neonatal epileptic encephalopathy (pyridoxine and folic acid-dependent epilepsy), and a gene set for the relatively frequent Methylmalonic Acidemia (incidence approx. 1: 50,000). The gene sets covering disorders of the amino acid metabolism (organic acidemia) were extended.

New Gene Sets for Metabolic Diseases:

MET04 – Pyridoxine and Folic Acid dependent Epilepsy (6 genes)
MET08 – Maple Syrup Urine Disease and DLD Deficiency (4 genes)
MET12 – Hyperinsulinemic Hypoglycemia (7 genes)
MET13 – Methylmalonic Acidemia (6 genes)

Please visit our webpage Epilepsy, Metabolic and Brain Development Disorders for further information.