Key result
Gabapentin rapidly improves clinical and EEG outcomes in a child with KCNQ2 p.G310S epileptic encephalopathy.
Why the study?
Channel subunits are associated with developmental epileptic encephalopathy, prompting the description of a child with early-onset DEE caused by a novel KCNQ2 p.G310S variant.
Does gabapentin improve clinical and EEG features in a patient with KCNQ2 developmental epileptic encephalopathy?
Comparison
Treatment with gabapentin
Design
Case report and in vitro study
Authors
Loading...
May support gabapentin as precision therapy in KCNQ2-DEE; hypothesis-generating and requires prospective validation.
Case Report (n=1)
Does gabapentin improve clinical and EEG features in a patient with KCNQ2 developmental epileptic encephalopathy?
Gabapentin may serve as a precision therapy for developmental epileptic encephalopathies caused by KCNQ2 loss-of-function mutations.
Soldovieri et al. (2020) conducted a case report in KCNQ2 developmental epileptic encephalopathy (n=1). Gabapentin was evaluated on Clinical and EEG improvement. Gabapentin treatment resulted in rapid and sustained clinical and EEG improvement in a child with early-onset developmental epileptic encephalopathy caused by a novel KCNQ2 p.G310S variant.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: