Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly

Abstract Background Classic lissencephaly is a malformation of cortical development that includes agyria and pachygyria. The major clinical symptoms are developmental impairment, muscular hypotonia, and drug-resistant epilepsy. The severity of the clinical phenotype depends on the associated gene an...

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Autori principali:	Christiane R. Proepper, Lisa-Maria Schwarz, Sofia M. Schuetz, Katja von Au, Thomas Bast, Nathalie Beaud, Ingo Borggraefe, Friedrich Bosch, Melanie Busse, Jena Chung, Otfried Debus, Katharina Diepold, Thomas Fries, Gero von Gersdorff, Martin Haeussler, Andreas Hahn, Till Hartlieb, Ralf Heiming, Peter Herkenrath, Gerhard Kluger, Jonas H. Kreth, Gerhard Kurlemann, Peter Moeller, Deborah J. Morris-Rosendahl, Axel Panzer, Heike Philippi, Sophia Ruegner, Carolina Toepfer, Silvia Vieker, Adelheid Wiemer-Kruel, Anika Winter, Gerhard Schuierer, Ute Hehr, Tobias Geis
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2026-05-01
Serie:	Orphanet Journal of Rare Diseases
Soggetti:	LIS1/PAFAH1B1 DCX DYNC1H1 TUBA1A TUBG1 Lissencephaly
Accesso online:	https://doi.org/10.1186/s13023-026-04398-z
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