Cargando…
The role of common genetic variation in presumed monogenic epilepsies
BACKGROUND: The developmental and epileptic encephalopathies (DEEs) are the most severe group of epilepsies which co-present with developmental delay and intellectual disability (ID). DEEs usually occur in people without a family history of epilepsy and have emerged as primarily monogenic, with dama...
Autores principales: | Campbell, Ciarán, Leu, Costin, Feng, Yen-Chen Anne, Wolking, Stefan, Moreau, Claudia, Ellis, Colin, Ganesan, Shiva, Martins, Helena, Oliver, Karen, Boothman, Isabelle, Benson, Katherine, Molloy, Anne, Brody, Lawrence, Michaud, Jacques L., Hamdan, Fadi F., Minassian, Berge A., Lerche, Holger, Scheffer, Ingrid E., Sisodiya, Sanjay, Girard, Simon, Cosette, Patrick, Delanty, Norman, Lal, Dennis, Cavalleri, Gianpiero L. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9188960/ https://www.ncbi.nlm.nih.gov/pubmed/35679801 http://dx.doi.org/10.1016/j.ebiom.2022.104098 |
Ejemplares similares
-
Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications
por: Wolking, Stefan, et al.
Publicado: (2021) -
Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery
por: Oliver, Karen L., et al.
Publicado: (2022) -
When Monogenic Isn’t Monogenic—Unravelling the Oligogenic
Architecture of the Developmental and Epileptic Encephalopathies
por: Scheffer, Ingrid E., et al.
Publicado: (2019) -
Assessment of burden and segregation profiles of CNVs in patients with epilepsy
por: Moreau, Claudia, et al.
Publicado: (2022) -
Postictal Psychosis in Epilepsy: A Clinicogenetic Study
por: Braatz, Vera, et al.
Publicado: (2021)