[P3-69] Five cases with epilepsy presenting voltage-gated sodium channel gene mutations
[Introduction] Mutations in a number of genes encoding voltage-gated sodium channels cause a variety of epilepsy syndromes in humans, including generalized epilepsy with febrile seizures plus (GEFS+), Dravet syndrome (DS) and unclassified epileptic encephalopathy. Here we report five cases with epilepsy presenting voltage-gated sodium channel gene mutations. [Case] Case 1 and case 2 are boys with Dravet syndrome, and STP adding VPA, CLB, KBr and DZP are effective for their febrile status epilepticus. Case 3 is a boy with an unclassified epileptic encephalopathy and congenital multiple arthrogryposis, and STP adding VPA and CLB are effective for tonic-clonic seizures, but severe multiple handicap was not improved. Case 4 is a boy with an unclassified epileptic encephalopathy, whose epilepsy onset was new-born period. Lidocaine patch and CBZ are effective for afebrile tonic-clonic seizures. Case 5 is a girl with malignant migrating partial seizures in infancy, whose seizures were refractory. After about 3 years from onset, seizures decreased by LEV and clorazepate dipotassium. Case 1, 2 and 3 have mutations in SCN1A gene, case 4 has mutations in SCN2A gene, case 5 has microdeletion in chromosome 2 including SCN1A and SCN2A gene. [Conclusions] We suggest that the genetic test for epileptic syndrome is useful not only for research, but also for selection of antiepileptic agents.