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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Neurol Genet
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Wolters Kluwer 2020
Pynciau:
Article
Mynediad Ar-lein: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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