Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy

Defects in neuronal migration cause brain malformations, which are associated with intellectual disability (ID) and epilepsy. Using exome sequencing, we identified compound heterozygous variants (p.Arg71His and p. Leu729ThrfsTer6) in TMTC3, encoding transmembrane and tetratricopeptide repeat contain...

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Detalles Bibliográficos
Autores principales: Farhan, Sali M K, Nixon, Kevin C J, Everest, Michelle, Edwards, Tara N, Long, Shirley, Segal, Dmitri, Knip, Maria J, Arts, Heleen H, Chakrabarti, Rana, Wang, Jian, Robinson, John F, Lee, Donald, Mirsattari, Seyed M, Rupar, C Anthony, Siu, Victoria M, Poulter, Michael O, Hegele, Robert A, Kramer, Jamie M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886076/
https://www.ncbi.nlm.nih.gov/pubmed/28973161
http://dx.doi.org/10.1093/hmg/ddx316

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886076/
https://www.ncbi.nlm.nih.gov/pubmed/28973161
http://dx.doi.org/10.1093/hmg/ddx316

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