ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder

Pathogenic variants of ADAM22 affecting either its biosynthesis and/or its interactions with either LGI1 and/or PSD-95 have been recently identified in individuals with developmental and epileptic encephalopathy. Here, we describe a girl with seizures, delayed psychomotor development, and behavioura...

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Detalles Bibliográficos
Autores principales: Nosková, Lenka, Fukata, Yuko, Stránecký, Viktor, Šaligová, Jana, Bodnárová, Oxana, Giertlová, Mária, Fukata, Masaki, Kmoch, Stanislav
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636567/
https://www.ncbi.nlm.nih.gov/pubmed/37953841
http://dx.doi.org/10.1093/braincomms/fcad295

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10636567/
https://www.ncbi.nlm.nih.gov/pubmed/37953841
http://dx.doi.org/10.1093/braincomms/fcad295

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