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

doi:10.1186/s13023-026-04398-z

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

Orphanet journal of rare diseases - 23 May 2026

Proepper Christiane R, Schwarz Lisa-Maria, Schuetz Sofia M, von Au Katja, Bast Thomas, Beaud Nathalie, Borggraefe Ingo, Bosch Friedrich, Busse Melanie, Chung Jena, Debus Otfried, Diepold Katharina, Fries Thomas, von Gersdorff Gero, 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: 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 and mutation. This study aimed to systematically investigate the genotype-specific course of the disease including...

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Identifiers

PMID: 42177523
DOI: 10.1186/s13023-026-04398-z
PMCID: PMC13202861

Genes

DCX
DYNC1H1
TUBA1A
TUBG1

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Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly.PMID 42177523Read ↗

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