Case of Resistant Epileptic Encephalopathy a Child with Microcephalic Capillary Malformation Syndrome

Abstract

of presented with the early-onset drug-resistant epilepsy, microcephaly, spastic tetraplegia, profound developmental delay, multiple small capillary hemangiomas in the skin, hypoplasia of fingers. A novel homozygous mutation of STAMBP gene (c188A>G; chr2:74058171rs781694797) in exon 2 was revealed. The same mutation was found in both parents. The antiepileptic drug combination therapy was given.