Article
Deep histopathology genotype-phenotype analysis of focal cortical dysplasia type II differentiates between the GATOR1-altered autophagocytic subtype IIa and MTOR-altered migration deficient subtype IIb.
Acta neuropathologica communications - 9 Nov 2023
Honke Jonas, Hoffmann Lucas, Coras Roland, Kobow Katja, Leu Costin, Pieper Tom, Hartlieb Till, Bien Christian G, Woermann Friedrich, Cloppenborg Thomas, Kalbhenn Thilo, Gaballa Ahmed, Hamer Hajo, Brandner Sebastian, Rössler Karl, Dörfler Arnd, Rampp Stefan, Lemke Johannes R, Baldassari Sara, Baulac Stéphanie, Lal Dennis, Nürnberg Peter, Blümcke Ingmar
Abstract excerpt
Focal cortical dysplasia type II (FCDII) is the most common cause of drug-resistant focal epilepsy in children. Herein, we performed a deep histopathology-based genotype-phenotype analysis to further elucidate the clinico-pathological and genetic presentation of FCDIIa compared to FCDIIb. Seventeen individuals with histopathologically confirmed diagnosis of FCD ILAE Type II and a pathogenic variant detected in...
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