Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Shan TangLaura AddisAnna SmithSimon D ToppManuela PendziwiatDavide MeiAlasdair ParkerShakti AgrawalElaine HughesKarine LascellesRuth E WilliamsPenny FallonRobert RobinsonHelen J CrossTammy HedderlyChristin EltzeTim KerrArchana DesurkarNahin HussainMaria KinaliIrene BagnascoGrace VassalloWilliam WhitehouseSushma GoyalMichael Absoudnull nullRikke Steensjerre MollerIngo HelbigYvonne G WeberCarla MariniRenzo GuerriniMichael A SimpsonDeb K PalPublished in: Epilepsia (2020)
MAE is associated with significant neurodevelopmental impairment. MAE is genetically heterogeneous, and we identified a pathogenic genetic etiology in 14% of this cohort by exome analysis. These findings suggest that MAE is a manifestation of several etiologies rather than a discrete syndromic entity.