DENND5A epileptic encephalopathy features global developmental delay, seizures and ventriculomegaly.

Banks E, Kharfalla F, Fonov V, Bayati A, Francis V, Kulasekaran G, Tuznik M, Han C, Al-Khater R, Alkuraya F, Argyriou L, Barr E, Bartik L, Bertrand M, Buchert R, Cadieux-Dion M, Cope H, Cushing D, Durcan TM, Neira-Fresneda J, Froukh T, Gill H, Goh E, Haack T, Hashem M, Hauser S, Hoffman T, Hogue J, Huynh S, Kaulfuß S, Korenke G, Kritzer A, Marco E, McWalter K , Minassian A, Minassian B, Northrupraha H, Oehl-Jaschkowitz B, Osmond M, Saunders C, Schoels L, Zhou D, Gan-Or Z, Rudko D and McPherson P. DENND5A epileptic encephalopathy features global developmental delay, seizures and ventriculomegaly. Nature Communications, in press. 2024. Preprint