Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely expressed in the brain and generates M-type current. Exome sequencing identified de novo heterozygous missense mutations in four probands with intellectual disability, abnormal neurological findings, a...

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Publié dans:Am J Hum Genet
Auteurs principaux: Lehman, Anna, Thouta, Samrat, Mancini, Grazia M.S., Naidu, Sakkubai, van Slegtenhorst, Marjon, McWalter, Kirsty, Person, Richard, Mwenifumbo, Jill, Salvarinova, Ramona, Guella, Ilaria, McKenzie, Marna B., Datta, Anita, Connolly, Mary B., Kalkhoran, Somayeh Mojard, Poburko, Damon, Friedman, Jan M., Farrer, Matthew J., Demos, Michelle, Desai, Sonal, Claydon, Thomas
Format: Artigo
Langue:Inglês
Publié: Elsevier 2017
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5501867/
https://ncbi.nlm.nih.gov/pubmed/28669405
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2017.05.016
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