Article
Characterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Neuropediatrics - 1 Dec 2024
Proepper Christiane R, Schuetz Sofia M, Schwarz Lisa-Maria, Au Katja von, Bast Thomas, Beaud Nathalie, Borggraefe Ingo, Bosch Friedrich, Budde Joerg, Busse Melanie, Chung Jena, Debus Otfried, Diepold Katharina, Fries Thomas, Gersdorff Gero von, Haeussler Martin, Hahn Andreas, Hartlieb Till, Heiming Ralf, Herkenrath Peter, Kluger Gerhard, Kreth Jonas H, Kurlemann Gerhard, Moeller Peter, Morris-Rosendahl Deborah J, Panzer Axel, Philippi Heike, Ruegner Sophia, Toepfer Carolina, Vieker Silvia, Wiemer-Kruel Adelheid, Winter Anika, Schuierer Gerhard, Hehr Ute, Geis Tobias
Abstract excerpt
BACKGROUND: Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (LIS1/PAFAH1B1, DCX,...
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