Key result
Off-label administration of retigabine (15 mg/kg) in a 7-year-old male with severe KCNQ2-related epileptic encephalopathy prompted a 90% reduction in seizure burden.
Why the study?
KCNQ2 mutations cause neonatal epilepsies, and retigabine may improve epilepsy control in loss-of-function mutations but exacerbate seizures in gain-of-function mutations.
Does retigabine reduce seizures in a patient with severe neonatal epileptic encephalopathy due to a KCNQ2 p.Gly281Arg mutation?
Case Report (n=1)
Does retigabine reduce seizures in a patient with severe neonatal epileptic encephalopathy due to a KCNQ2 p.Gly281Arg mutation?
Retigabine administration guided by electrophysiological analysis resulted in a 90% seizure reduction in a patient with a KCNQ2 loss-of-function mutation.
Authors
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May support individualized retigabine trials in KCNQ2 encephalopathy; hypothesis-generating and leaves open need for controlled studies.
Nissenkorn et al. (2021) conducted a case report in Severe neonatal epileptic encephalopathy (n=1). Retigabine vs. Drug withdrawal was evaluated on Seizure reduction. Off-label administration of retigabine (15 mg/kg) in a 7-year-old male with severe KCNQ2-related epileptic encephalopathy prompted a 90% reduction in seizure burden.
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