Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits

Here, we report a consanguineous family harboring a novel homozygous frame-shift mutation in ASPM leading to a truncation of the ASPM protein after amino acid position 1830. The phenotype of the patients was associated with microcephaly, epilepsy, and behavioral and cognitive deficits. Despite the o...

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Detalles Bibliográficos
Autores principales: von Wrede, Randi, Schidlowski, Martin, Huppertz, Hans-Jürgen, Rüber, Theodor, Ivo, Anja, Baumgartner, Tobias, Hallmann, Kerstin, Zsurka, Gábor, Helmstaedter, Christoph, Surges, Rainer, Kunz, Wolfram S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8956106/
https://www.ncbi.nlm.nih.gov/pubmed/35327983
http://dx.doi.org/10.3390/genes13030429

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8956106/
https://www.ncbi.nlm.nih.gov/pubmed/35327983
http://dx.doi.org/10.3390/genes13030429

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