Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly
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 · 2026
Read Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly by 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 (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-13202861.txt.
Description
Christiane Proepper and co-authors track the long term course of lissencephaly by gene, in a 2026 paper. The catalog list is truncated, so team framing is used. In this brain malformation the cortex is smooth or thickened, and the main signs are developmental impairment, low muscle tone, and drug resistant epilepsy.
Forty seven patients with gene and scan confirmed disease took part, most with a change in one main gene and a few in four others. Families and doctors filled standard forms, and family quality of life was scored. Prenatal signs such as a small head showed in about four in ten cases in the two larger gene groups. The gene linked course can guide care and family planning.
Catalog record
| CREATOR | 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 |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 50 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |