Epilepsia
A novel PTEN variant causing hemimegalencephaly and focal nodular heterotopias in the developing human brain.
Franziska Fazekas, Amit Haboosheh, Bernhard Hennebichler, Thomas Roetzer-Pejrimovsky, Julia Binder, Theresa Reischer, Mateja Pfeifer, Anke Scharrer, Christof Worda, Tina Linder, Alex Farr, Romana Höftberger, Ellen Gelpi, Christian Mitter, Gregor Kasprian
Published: 202610.1002/epi.70088
Abstract
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 dis…
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