CDKL5 Deficiency Disorder: Relationship between genotype, epilepsy, cortical visual impairment and development.

OBJECTIVE: The cyclin-dependent kinase-like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder (CDD). We sought to provide 1) a description of seizure types in patients with CDD; 2) an assessment of the frequency of seizure free perio...

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保存先:
書誌詳細
出版年:Epilepsia
主要な著者: Demarest, Scott T., Olson, Heather E., Moss, Angela, Pestana-Knight, Elia, Zhang, Xiaoming, Parikh, Sumit, Swanson, Lindsay C., Riley, Katherine D., Bazin, Grace A., Angione, Katie, Niestroj, Lisa-Marie, Lal, Dennis, Juarez-Colunga, Elizabeth, Benke, Tim A.
フォーマット: Artigo
言語:Inglês
出版事項: 2019
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7098045/
https://ncbi.nlm.nih.gov/pubmed/31313283
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/epi.16285
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