Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy
Author(s) -
Julia N. Bailey,
Laurence de Nijs,
Dongsheng Bai,
Toshimitsu Suzuki,
Hiroyuki Miyamoto,
Miyabi Tanaka,
Christopher Patterson,
YuChen Lin,
Marco T. Medina,
María Elisa Alonso,
José M. Serratosa,
Reyna M. Durón,
Việt Hương Nguyễn,
Jenny E. Wight,
Iris E. MartínezJuárez,
Adriana Ochoa,
Aurelio JaraPrado,
Laura Maria de Figueiredo Ferreira Guilhoto,
Yolly Molina,
Elsa Marcia Yacubian,
Minerva LópezRuiz,
Yushi Inoue,
Sunao Kaneko,
Shinichi Hirose,
Makiko Ōsawa,
Hirokazu Oguni,
Shinji Fujimoto,
Thierry Grisar,
John M. Stern,
Kazuhiro Yamakawa,
Bernard Lakaye,
Antonio V. DelgadoEscueta
Publication year - 2018
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1700175
Subject(s) - juvenile myoclonic epilepsy , epilepsy , myoclonic jerk , status epilepticus , genetics , sanger sequencing , medicine , exome sequencing , biology , gene , psychiatry , mutation
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.
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