A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

BACKGROUND: Developmental and epileptic encephalopathies (DEE) are chronic neurological conditions where epileptic activity contributes to the progressive disruption of brain function, frequently leading to impaired motor, cognitive and sensory development. PATIENTS AND METHODS: The present study re...

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Detalles Bibliográficos
Autores principales: Jdila, Marwa Ben, Mignon-Ravix, Cécile, Ncir, Sihem Ben, Kammoun, Fatma, Fakhfakh, Faiza, Villard, Laurent, Triki, Chahnez
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8286605/
https://www.ncbi.nlm.nih.gov/pubmed/34273994
http://dx.doi.org/10.1186/s13023-021-01951-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8286605/
https://www.ncbi.nlm.nih.gov/pubmed/34273994
http://dx.doi.org/10.1186/s13023-021-01951-w

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