Details

Autor(en) / Beteiligte

• Lerche, Holger
• Berkovic, Samuel F
• Lowenstein, Daniel H
• Delgado-Escueta, Antonio V
• Bailey, Julia N

Titel

Intestinal-Cell Kinase and Juvenile Myoclonic Epilepsy

Ist Teil von

• The New England journal of medicine, 2019-04, Vol.380 (16), p.e24-1028

Ort / Verlag

United States: Massachusetts Medical Society

Erscheinungsjahr

2019

Quelle

MEDLINE

Beschreibungen/Notizen

• To the Editor: With regard to the article by Bailey et al. (March 15, 2018, issue) 1 on the potential role of variants in the gene encoding intestinal-cell kinase ( ICK ) in genetic generalized epilepsies, including juvenile myoclonic epilepsy: We attempted replication by rechecking for enrichment of ICK variants in two previously published analyses of mainly familial cases of genetic generalized epilepsy, 2,3 which included a total of 1149 cases of genetic generalized epilepsy and 5911 ethnically matched controls. We analyzed the burden of single-gene rare variants with the use of whole-exome sequencing data, applying population stratification and both sample and variant quality . . .