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...
Guardado en:
Autores principales: | Justyna Paprocka, Szymon Ziętkiewicz, Joanna Kosińska, Ewa Kaczorowska, Rafał Płoski |
---|---|
Formato: | article |
Lenguaje: | EN |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://doaj.org/article/75abd66cdb7046878bf295c956b98ebf |
Etiquetas: |
Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
|
Ejemplares similares
-
Rufinamide in patients with Lennox-Gastaut syndrome
por: Clark PO, et al.
Publicado: (2016) -
Truncating mutation in TANC2 in a Chinese boy associated with Lennox-Gastaut syndrome: a case report
por: Yang Tian, et al.
Publicado: (2021) -
Adjunctive Rufinamide in Children with Lennox-Gastaut Syndrome: A Literature Review
por: Balagura G, et al.
Publicado: (2020) -
Treatment-resistant Lennox-Gastaut syndrome: therapeutic trends, challenges and future directions
por: Ostendorf AP, et al.
Publicado: (2017) -
Treating Lennox–Gastaut syndrome in epileptic pediatric patients with third-generation rufinamide
por: Jessica Gresham, et al.
Publicado: (2010)