Perampanel as precision therapy in rare genetic epilepsies.

Andreea NissenkornGerhard KlugerSusanne Schubert-Bast Carolina AlvarezMarya BobylovaPaolo BonanniBerten CeulemansAntonietta Coppola Carlo Di Bonaventura Martha FeuchtAnne FuchsGudrun GröppelGali HeimerBrigitte HerdtSviatlana KulikovaKonstantin MukhinStefania NicassioAlessandro OrsiniMaria PanagiotouMilka PringsheimBurkhard PuestOlga PylaevaGeorgia RamantaniMaria TsekouraPaolo RicciardelliTally Lerman SagieBrigit StarkPasquale StrianoAndreas van BaalenMatthias De WachterEmanuele Cerulli IrelliClaudia CuccurulloCelina von Stülpnagel Angelo Russo

Published in: Epilepsia (2023)

Perampanel demonstrated high safety and efficacy in patients with rare genetic epilepsies, especially in SCN1A, GNAO1, PIGA, PCDH19, SYNGAP1, CDKL5, NEU1, and POLG, suggesting a targeted effect related to glutamate transmission.

Keyphrases

genome wide
copy number
stem cells
gene expression
bone marrow
drug delivery
cell therapy