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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
Publicado en:Epilepsia Open
Main Authors: Hiraide, Takuya, Hattori, Ayako, Ieda, Daisuke, Hori, Ikumi, Saitoh, Shinji, Nakashima, Mitsuko, Saitsu, Hirotomo
Formato: Artigo
Idioma:Inglês
Publicado: John Wiley and Sons Inc. 2019
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC6698685/
https://ncbi.nlm.nih.gov/pubmed/31440728
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/epi4.12339
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