Sentences with phrase «onset epileptic encephalopathy»

Compound heterozygous mutations in UBA5 causing early - onset epileptic encephalopathy in two sisters.

Mutations that detrimentally affect the function of neuronal KV7 channels cause hyperexcitability syndromes such as benign familial neonatal seizures, early onset epileptic encephalopathy, and peripheral nerve hyperexcitability.

Not exact matches

Objective: To define a distinct SCN1A developmental and epileptic encephalopathy with early onset, profound impairment, and movement disorder.