Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

doi:10.1056/NEJMoa1700175

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Article

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

The New England journal of medicine - 15 Mar 2018

Bailey Julia N, de Nijs Laurence, Bai Dongsheng, Suzuki Toshimitsu, Miyamoto Hiroyuki, Tanaka Miyabi, Patterson Christopher, Lin Yu-Chen, Medina Marco T, Alonso María E, Serratosa José M, Durón Reyna M, Nguyen Viet H, Wight Jenny E, Martínez-Juárez Iris E, Ochoa Adriana, Jara-Prado Aurelio, Guilhoto Laura, Molina Yolly, Yacubian Elsa M, López-Ruiz Minerva, Inoue Yushi, Kaneko Sunao, Hirose Shinichi, Osawa Makiko, Oguni Hirokazu, Fujimoto Shinji, Grisar Thierry M, Stern John M, Yamakawa Kazuhiro, Lakaye Bernard, Delgado-Escueta Antonio V

Abstract excerpt

BACKGROUND: In juvenile myoclonic epilepsy, data are limited on the genetic basis of networks promoting convulsions with diffuse polyspikes on electroencephalography (EEG) and the subtle microscopic brain dysplasia called microdysgenesis. METHODS: Using Sanger sequencing, we sequenced the exomes of six members of a large family affected with juvenile myoclonic epilepsy and confirmed cosegregation in all 37 family...

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PMID: 29539279
DOI: 10.1056/NEJMoa1700175

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