Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

Developmental and epileptic encephalopathies (DEEs) are a group of severe epilepsies characterized by refractory seizures and developmental impairment. Sequencing approaches have identified causal genetic variants in only about 50% of individuals with DEEs.1, 2, 3 This suggests that unknown genetic...

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Pubblicato in:Am J Hum Genet
Autori principali: Carvill, Gemma L., Engel, Krysta L., Ramamurthy, Aishwarya, Cochran, J. Nicholas, Roovers, Jolien, Stamberger, Hannah, Lim, Nicholas, Schneider, Amy L., Hollingsworth, Georgie, Holder, Dylan H., Regan, Brigid M., Lawlor, James, Lagae, Lieven, Ceulemans, Berten, Bebin, E. Martina, Nguyen, John, Barsh, Gregory S., Weckhuysen, Sarah, Meisler, Miriam, Berkovic, Samuel F., De Jonghe, Peter, Scheffer, Ingrid E., Myers, Richard M., Cooper, Gregory M., Mefford, Heather C.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6288405/
https://ncbi.nlm.nih.gov/pubmed/30526861
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.10.023
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