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...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Am J Hum Genet
Главные авторы: 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.
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2018
Предметы:
Report
Online-ссылка: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
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!

Схожие документы