Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy

OBJECTIVE: To identify the molecular genetic basis of a syndrome characterized by rapidly progressing cerebral atrophy, intractable seizures, and intellectual disability. METHODS: We performed exome sequencing in the proband and whole-genome single nucleotide polymorphism genotyping (copy number var...

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Detalles Bibliográficos
Autores principales: Muona, Mikko, Fukata, Yuko, Anttonen, Anna-Kaisa, Laari, Anni, Palotie, Aarno, Pihko, Helena, Lönnqvist, Tuula, Valanne, Leena, Somer, Mirja, Fukata, Masaki, Lehesjoki, Anna-Elina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817901/
https://www.ncbi.nlm.nih.gov/pubmed/27066583
http://dx.doi.org/10.1212/NXG.0000000000000046

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4817901/
https://www.ncbi.nlm.nih.gov/pubmed/27066583
http://dx.doi.org/10.1212/NXG.0000000000000046

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