Somatic SLC35A2 mosaicism correlates with clinical findings in epilepsy brain tissue

OBJECTIVE: Many genetic studies of intractable epilepsy in pediatric patients primarily focus on inherited, constitutional genetic deficiencies identified in patient blood. Recently, studies have revealed somatic mosaicism associated with epilepsy in which genetic variants are present only in a subs...

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書誌詳細
出版年:Neurol Genet
主要な著者: Miller, Katherine E., Koboldt, Daniel C., Schieffer, Kathleen M., Bedrosian, Tracy A., Crist, Erin, Sheline, Adrienne, Leraas, Kristen, Magrini, Vincent, Zhong, Huachun, Brennan, Patrick, Bush, Jocelyn, Fitch, James, Bir, Natalie, Miller, Anthony R., Cottrell, Catherine E., Leonard, Jeffrey, Pindrik, Jonathan A., Rusin, Jerome A., Shah, Summit H., White, Peter, Wilson, Richard K., Mardis, Elaine R., Pierson, Christopher R., Ostendorf, Adam P.
フォーマット: Artigo
言語:Inglês
出版事項: Wolters Kluwer 2020
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7323482/
https://ncbi.nlm.nih.gov/pubmed/32637635
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000460
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