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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Xehetasun bibliografikoak
Argitaratua izan da:Neurol Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer 2020
Gaiak:
Article
Sarrera elektronikoa: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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