Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies

TUBA1A tubulinopathy is a rare neurodevelopmental disorder associated with brain malformations as well as early-onset and intractable epilepsy. As pathomechanisms and genotype-phenotype correlations are not completely understood, we aimed to provide further insights into the phenotypic and genetic s...

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Detalles Bibliográficos
Autores principales: Schröter, Julian, Popp, Bernt, Brennenstuhl, Heiko, Döring, Jan H., Donze, Stephany H., Bijlsma, Emilia K., van Haeringen, Arie, Huhle, Dagmar, Jestaedt, Leonie, Merkenschlager, Andreas, Arelin, Maria, Gräfe, Daniel, Neuser, Sonja, Oates, Stephanie, Pal, Deb K., Parker, Michael J., Lemke, Johannes R., Hoffmann, Georg F., Kölker, Stefan, Harting, Inga, Syrbe, Steffen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904761/
https://www.ncbi.nlm.nih.gov/pubmed/35017693
http://dx.doi.org/10.1038/s41431-021-01027-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8904761/
https://www.ncbi.nlm.nih.gov/pubmed/35017693
http://dx.doi.org/10.1038/s41431-021-01027-0

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