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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| Main Authors: | , , , , |
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| Format: | article |
| Language: | EN |
| Published: |
Frontiers Media S.A.
2021
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| Subjects: | |
| Online Access: | https://doaj.org/article/75abd66cdb7046878bf295c956b98ebf |
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