Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Claire BarMathieu KuchenbuchGiulia BarciaAmy SchneiderMélanie JennessonGwenaël Le GuyaderGaëtan LescaCyril MignotMartino MontomoliElena ParriniHervé IsnardAnne RollandBoris KerenAlexandra AfenjarNathalie DorisonLynette Grant SadleirDelphine BreuillardRaphael LevyMarlène RioSophie DupontSusanna NegrinAlberto DanieliEmmanuel ScalaisAnne De Saint MartinSalima El ChehadehJamel ChellyAlice PoissonAnne-Sophie LebreAnca NicaSylvie OdentTayeb SekharaVesna BrankovicAlice GoldenbergPascal VrielynckDamien LedererHélène MaureyGaetano TerroneClaude BesmondLaurence HubertPatrick BerquinThierry Billette de VillemeurBertrand IsidorJeremy L FreemanHeather C MeffordCandace T MyersKatherine B HowellAndrés Rodríguez-Sacristán CascajoPierre MeyerDavid GenevieveAgnès GuëtDiane DoummarJulien DurigneuxMarieke F van DoorenMarie Claire Y de WitMarion GerardIsabelle MareyArnold MunnichRenzo GuerriniIngrid Eileen SchefferEdor KabashiRima NabboutPublished in: Epilepsia (2020)
Our study describes the phenotypic spectrum of KCNB1 encephalopathy, which varies from severe DEE to DE with or without epilepsy. Although cognitive impairment is worse in patients with DEE, long-term outcome is poor for most and missense variants are associated with more severe epilepsy outcome. Further understanding of disease mechanisms should facilitate the development of targeted therapies, much needed to improve the neurodevelopmental prognosis.