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Article

Genomic analysis of "microphenotypes" in epilepsy.

American journal of medical genetics. Part A - 1 Jan 2022

Stanley Kate, Hostyk Joseph, Tran Linh, Amengual-Gual Marta, Dugan Patricia, Clark Justice, Choi Hyunmi, Tchapyjnikov Dmitry, Perucca Piero, Fernandes Cecilia, Andrade Danielle, Devinsky Orrin, Cavalleri Gianpiero L, Depondt Chantal, Sen Arjune, O'Brien Terence, Heinzen Erin, Loddenkemper Tobias, Goldstein David B, Mikati Mohamed A, Delanty Norman

Abstract excerpt

Large international consortia examining the genomic architecture of the epilepsies focus on large diagnostic subgroupings such as "all focal epilepsy" and "all genetic generalized epilepsy". In addition, phenotypic data are generally entered into these large discovery databases in a unidirectional manner at one point in time only. However, there are many smaller phenotypic subgroupings in epilepsy, many of which...

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PMID: 34569149
DOI: 10.1002/ajmg.a.62505

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