Benign familial neonatal/infantile seizures

Idiopathic epilepsies are genetically determined. The idiopathic focal epilepsies include the benign syndromes of early childhood and are divided into the syndromes of benign familial neonatal (BFNS), neonatal-infantile (BFNIS) and infantile (BFIS) seizures based on the onset of seizures. They are characterized by a normal psychomotor development and an excellent response to anticonvulsive medication. In BFNS, mutations in the potassium channel genes KCNQ2/KCNQ3 have been described, in BFNIS mutations in the sodium channel subtype SCN2A and in patients with BFIS mutations in a gene indicating a completely different epilepsy mechanism: the mutations in PRRT2 seem to influence the vesicular metabolism of the presynaptic neuronal membrane and the transmitter release. In recent years genetic and functional investigations in these syndromes have contributed to a deeper pathophysiological understanding of epilepsy itself and to the development of new therapeutic strategies. In these syndromes an early genetic diagnostic helps to avoid unnecessary diagnostic steps and to stop the anticonvulsive therapy early.