Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families

Bi‐allelic variants affecting one of the four genes encoding the AP4 subunits are responsible for the “AP4 deficiency syndrome.” Core features include hypotonia that progresses to hypertonia and spastic paraplegia, intellectual disability, postnatal microcephaly, epilepsy, and neuroimaging features....

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Detalles Bibliográficos
Autores principales: Becker, Aurélie, Felici, Charlotte, Lambert, Laëtitia, de Saint Martin, Anne, Abi‐Warde, Marie‐Thérèse, Schaefer, Elise, Zix, Christian, Zamani, Mina, Sadeghian, Saeid, Zeighami, Jawaher, Seifi, Tahereh, Azizimalamiri, Reza, Shariati, Gholamreza, Galehdari, Hamid, Selig, Mareike, Ding, Can, Duerinckx, Sarah, Pirson, Isabelle, Abramowicz, Marc, Clément, Guillemette, Leheup, Bruno, Jonveaux, Philippe, Lefort, Geneviève, Bronner, Myriam, Renaud, Mathilde, Bonnet, Céline
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2022
Materias:
Short Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10108251/
https://www.ncbi.nlm.nih.gov/pubmed/36371792
http://dx.doi.org/10.1111/cge.14264

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