• The patient with the p.Thr381Ala (NM_004770.3:c.1141A>G) variant, who presented with epilepsy, is being treated with Levetiracetam.
• The patient with the p.Pro276Leu (NM_004770.3: c.827C>T) variant presents drug resistant focal and generalized seizures that show multifocal abnormalities with frontal predominance on the EEG. Previous anti-seizure medications (ASM) include Ethosuximide, VPA, perampanel, topiramate, clobazam, rufinamide, memantine, levetiracetam, IVIG; Current ASM include Lamotrigine, Oxcarbazepine, Sulthiame, Vagal Nerve Stimulator and Diazepam as needed.
• At the time of diagnosis, we recommend a developmental assessment to include motor, adaptive, cognitive, & speech-language evaluation. Children should be evaluated for potential early intervention / special education. A brain MRI should be performed to assess for possible anomalies. An EEG should be performed if there is clinical suspicion of seizures. A cardiac echo and abdominal ultrasound should be performed as some individuals have cardiac and urogenital anomalies. An ophthalmologist should be seen for possible ophthalmological anomalies. A hearing test should be performed once.
KCNB2