Dissecting the genetics of spectrum of Epilepsies with Eyelid Myoclonia by exome sequencing.
Antonietta CoppolaS KrithikaMichele IacominoDheeraj BobbiliSimona BalestriniIrene BagnascoLeonilda BiloDaniela ButiSusanna CasellatoClaudia CuccurulloEdoardo FerlazzoCostin LeuLucio GiordanoGiuseppe GobbiLaura Hernandez-HernandezNick LenchHelena MartinsStefano MelettiTullio MessanaVincenzo NigroMichele PinelliTommaso PippucciRavishankara BellampalliBarbara SalisVito SofiaPasquale StrianoSalvatore StrianoLaura TassiAglaia VignoliAnna Elisabetta VaudanoMaurizio ViriIngrid Eileen SchefferPatrick MayFederico ZaraSanjay M SisodiyaPublished in: Epilepsia (2023)
Our results suggest that for EEM, as for many other epilepsies, the identification of a genetic cause is more likely with co-morbid ID and/or other neurodevelopmental disorders. Pathogenic variants were mostly found in CHD2 and the association of CHD2-EEM+ can now be considered a reasonable gene-disease association. We provide further evidence to strengthen the association of EEM+ with NEXMIF and SYNGAP1. Possible new associations between EEM+ and TRIM8, and EEM- and IFIH1, are also reported. While we provided robust evidence for gene variants associated with EEM+, the core genetic aetiology of EEM- remains to be elucidated.