Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy

Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy. Case 1, a 23-year-old boy, was found to have a brain mal...

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Detalles Bibliográficos
Autores principales: Hung, Kun-Long, Lu, Jyh-Feng, Su, Da-Jyun, Hsu, Su-Jin, Wang, Lee-Chin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332459/
https://www.ncbi.nlm.nih.gov/pubmed/35892608
http://dx.doi.org/10.3390/children9081105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9332459/
https://www.ncbi.nlm.nih.gov/pubmed/35892608
http://dx.doi.org/10.3390/children9081105

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