Article
A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.
Epilepsia - 1 Feb 2026
Fazekas Franziska, Haboosheh Amit, Hennebichler Bernhard, Roetzer-Pejrimovsky Thomas, Binder Julia, Reischer Theresa, Pfeifer Mateja, Scharrer Anke, Worda Christof, Linder Tina, Farr Alex, Höftberger Romana, Gelpi Ellen, Mitter Christian, Kasprian Gregor, Haberler Christine, Amberg Nicole
Abstract excerpt
Brain development and subsequent brain function are highly sensitive to genetic mutations, which can result in severe neurodevelopmental malformations. Alterations in PTEN signaling cause a spectrum of developmental malformations and neurological diseases including epilepsy. To date, a detailed understanding of the neuropathological underpinnings of PTEN-associated brain malformations, particularly in fetuses, is...
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