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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Vydáno v:Neurol Genet
Hlavní autoři: 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.
Médium: Artigo
Jazyk:Inglês
Vydáno: Wolters Kluwer 2020
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On-line přístup: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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