Case Report: Lennox–Gastaut Epileptic Encephalopathy Responsive to Cannabidiol Treatment Associated With a Novel de novo Mosaic SHANK1 Variant

The SH3 and multiple ankyrin repeat domains (SHANKs) are a family of scaffolding proteins located in excitatory synapses required for their development and function. Molecular defects of SHANK3 are a well-known cause of several neurodevelopmental entities, in particular autism spectrum disorders and...

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Detalles Bibliográficos
Autores principales: Paprocka, Justyna, Ziętkiewicz, Szymon, Kosińska, Joanna, Kaczorowska, Ewa, Płoski, Rafał
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667173/
https://www.ncbi.nlm.nih.gov/pubmed/34912368
http://dx.doi.org/10.3389/fgene.2021.735292

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667173/
https://www.ncbi.nlm.nih.gov/pubmed/34912368
http://dx.doi.org/10.3389/fgene.2021.735292

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