[P3-72] A Case of Epilepsy with NRAS mutation
[Introduction] The RAS/MAPK syndromes are known to cause various diseases such as blood diseases and neurological diseases. We would like to report a 16-year-old female case with severe psychomotor developmental delay and epilepsy due to Noonan 6 gene abnormality and epilepsy, shown the phenotype of cardio-facio-cutaneous (CFC) syndrome/ Noonan syndrome. [Case] A 16-year-old Japanese female, who was delivered without complications as the second child of healthy and nonconsanguineous parents, has had severe psychomotor developmental delay. She is hypotonic and has no head control. She has microcephalus. Brain MRI shows ageneis of corpus callosum and hypoplasia of frontal lobe. Onset of epilepsy was 1 year and 4 months. Interictal EEG showed no abnormal findings but epilepsy was intractable. Sodium valproate and phenobarbital were not effective. Levetiracetam worsened the seizure. Seizures is currently controlled with phenytoin, phenobarbital, sodium valproate and nitrazepam. When she was sixteen years old whole exome sequencing was performed. She has NRAS (NEUROBLASTOMA RAS VIRAL ONCOGENE HOMOLOG) gene mutation NM_002524.4:c.34G>A;p.(Gly12Ser) de novo. This is a novel mutation in Noonan syndrome 6.