Cargando…
Epilepsy in Tubulinopathy: Personal Series and Literature Review
Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy are the main clinical symptoms. In the present stud...
Autores principales: | Romaniello, Romina, Zucca, Claudio, Arrigoni, Filippo, Bonanni, Paolo, Panzeri, Elena, Bassi, Maria T., Borgatti, Renato |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6678821/ https://www.ncbi.nlm.nih.gov/pubmed/31269740 http://dx.doi.org/10.3390/cells8070669 |
Ejemplares similares
-
Long‐term follow‐up in a cohort of children with isolated corpus callosum agenesis at fetal MRI
por: Romaniello, Romina, et al.
Publicado: (2021) -
Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5
por: Romaniello, Romina, et al.
Publicado: (2021) -
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders
por: Romaniello, Romina, et al.
Publicado: (2022) -
Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy
por: Hung, Kun-Long, et al.
Publicado: (2022) -
Editorial: Tubulinopathies: fundamental and clinical challenges
por: Sferra, Antonella, et al.
Publicado: (2023)