Article
Gabapentin treatment in a patient with KCNQ2 developmental epileptic encephalopathy.
Pharmacological research - 1 Oct 2020
Soldovieri Maria Virginia, Freri Elena, Ambrosino Paolo, Rivolta Ilaria, Mosca Ilaria, Binda Anna, Murano Carmen, Ragona Francesca, Canafoglia Laura, Vannicola Chiara, Solazzi Roberta, Granata Tiziana, Castellotti Barbara, Messina Giuliana, Gellera Cinzia, Labalme Audrey, Lesca Gaetan, DiFrancesco Jacopo C, Taglialatela Maurizio
Abstract excerpt
De novo variants in KCNQ2 encoding for Kv7.2 voltage-dependent neuronal potassium (K+) channel subunits are associated with developmental epileptic encephalopathy (DEE). We herein describe the clinical and electroencephalographic (EEG) features of a child with early-onset DEE caused by the novel KCNQ2 p.G310S variant. In vitro experiments demonstrated that the mutation induces loss-of-function effects on the...
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