Heterozygous loss of function of IQSEC2/Iqsec2 leads to increased activated Arf6 and severe neurocognitive seizure phenotype in females

Clinical presentations of mutations in the IQSEC2 gene on the X-chromosome initially implicated to cause non-syndromic intellectual disability (ID) in males have expanded to include early onset seizures in males as well as in females. The molecular pathogenesis is not well understood, nor the mechan...

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Detalles Bibliográficos
Autores principales: Jackson, Matilda R, Loring, Karagh E, Homan, Claire C, Thai, Monica HN, Määttänen, Laura, Arvio, Maria, Jarvela, Irma, Shaw, Marie, Gardner, Alison, Gecz, Jozef, Shoubridge, Cheryl
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Life Science Alliance LLC 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706959/
https://www.ncbi.nlm.nih.gov/pubmed/31439632
http://dx.doi.org/10.26508/lsa.201900386

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6706959/
https://www.ncbi.nlm.nih.gov/pubmed/31439632
http://dx.doi.org/10.26508/lsa.201900386

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