De novo variants in SETD1B cause intellectual disability, autism spectrum disorder, and epilepsy with myoclonic absences

Epilepsy with myoclonic absences is a specific seizure type characterized by bilateral rhythmic clonic jerks with impairment of consciousness. Here, we report an individual with epilepsy with myoclonic absences, mild intellectual disabilities, language disorder, and autism spectrum disorder. His int...

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Detalles Bibliográficos
Autores principales: Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Short Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698685/
https://www.ncbi.nlm.nih.gov/pubmed/31440728
http://dx.doi.org/10.1002/epi4.12339

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698685/
https://www.ncbi.nlm.nih.gov/pubmed/31440728
http://dx.doi.org/10.1002/epi4.12339

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