Developmental epileptic encephalopathy in DLG4-related synaptopathy.
Benedetta KassabianAmanda M LevyElena GardellaAngel Aledo-SerranoAmitha L AnanthAlejandro J Brea-FernándezRoseline CaumesNicolas ChatronAlice DainelliMatthias De WachterAnne Sophie Denommé-PichonThomas J DyeElisa FazziRoxanne FeltAlberto Fernández-JaénMontse Fernández-PrietoEmily GantzPiotr GasperowiczAntonio Gil-NagelDavid Gómez-AndrésHansel M GreinerRenzo GuerriniMaria K HaanpääMinttu HelinJuliane HoyerAnna C E HurstStaci KallishShefali N KarkareAmjad KhanLotte KleinendorstJohannes KochSanjeev V KothareSuzanna M KoudijsLieven LagaePhillis LakemanKathleen A LeppigGaëtan LescaDiego LopergoloLaina LuskAlex MackenzieDavide MeiRikke S MøllerElaine M PereiraKonrad PlatzerChloe QuelinAnya Revah-PolitiSylvain RheimsAgustí Rodríguez-PalmeroAndrea RossiFilippo SantorelliSyndi SeinfeldErick SellDonna StephensonKrzysztof SzczalubaEugen TrinkaMuhammad UmairHilde Van EschMieke M van HaelstDanielle C M VeenmaSacha WeberSarah WeckhuysenPia ZacherZeynep TümerGuido RubboliPublished in: Epilepsia (2024)
Our study shows that a subgroup of individuals with DLG4-related synaptopathy have DEE, and approximately one fourth of them have ESES/DEE-SWAS. Our study confirms DEE as part of the DLG4-related phenotypic spectrum. Occurrence of ESES/DEE-SWAS in DLG4-related synaptopathy requires proper investigation with sleep EEG.