Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state

BACKGROUND: Developmental and epileptic encephalopathies (DEEs) represent a group of severe neurological disorders characterised by an onset of refractory seizures during infancy or early childhood accompanied by psychomotor developmental delay or regression. DEEs are genetically heterogeneous with,...

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Detalles Bibliográficos
Autores principales: Yigit, Gökhan, Sheffer, Ruth, Daana, Muhannad, Li, Yun, Kaygusuz, Emrah, Mor-Shakad, Hagar, Altmüller, Janine, Nürnberg, Peter, Douiev, Liza, Kaulfuss, Silke, Burfeind, Peter, Wollnik, Bernd, Brockmann, Knut
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2022
Materias:
Neurogenetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9132866/
https://www.ncbi.nlm.nih.gov/pubmed/34172529
http://dx.doi.org/10.1136/jmedgenet-2021-107769

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9132866/
https://www.ncbi.nlm.nih.gov/pubmed/34172529
http://dx.doi.org/10.1136/jmedgenet-2021-107769

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