Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1

Heterozygous pathogenic variants in DNM1 are linked to an autosomal dominant form of epileptic encephalopathy. Recently, homozygous loss-of-function variants in DNM1 were reported to cause an autosomal recessive form of developmental and epileptic encephalopathy in unrelated patients. Here, we inves...

Descripción completa

Detalles Bibliográficos
Autores principales: AlTassan, Ruqaiah, AlQudairy, Hanan, Alromayan, Rakan, Alfalah, Abdullah, AlHarbi, Omar A., González-Álvarez, Ana C., Arold, Stefan T., Kaya, Namik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777962/
https://www.ncbi.nlm.nih.gov/pubmed/36553519
http://dx.doi.org/10.3390/genes13122252

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777962/
https://www.ncbi.nlm.nih.gov/pubmed/36553519
http://dx.doi.org/10.3390/genes13122252

Ejemplares similares