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Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy.

Julia N Bailey1, Laurence de Nijs1, Dongsheng Bai1

  • 1From the Epilepsy Genetics-Genomics Lab, Neurology and Research Services, Veterans Affairs Greater Los Angeles Healthcare System (J.N.B., D.B., M.T., C.P., Y.-C.L., J.M. Serratosa, R.M.D., V.H.N., J.E.W., A.V.D.-E.), the Department of Neurology, David Geffen School of Medicine at UCLA (D.B., M.T., J.M. Serratosa, J.M. Stern, A.V.D.-E.), and the Department of Epidemiology, Fielding School of Public Health, University of California, Los Angeles (J.N.B.), Los Angeles, and Chapman University, Irvine (V.H.N.) - all in California; Grappe Interdisciplinaire de Génoprotéomique Appliquée Neurosciences, University of Liege, Liege, Belgium (L.N., T.M.G., B.L.); RIKEN Brain Science Institute, Saitama (T.S., H.M., K.Y.), Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka (Y.I.), Hirosaki University Graduate School of Medicine, Hirosaki (S.K.), Fukuoka University, Fukuoka (S.H.), Tokyo Women's Medical University, Tokyo (M.O., H.O.), Nagoya City University, Nagoya (S.F.), and Tsutsujigaoka Children's Clinic, Aichi (S.F.) - all in Japan; National Autonomous University of Honduras (M.T.M., Y.M.) and Universidad Tecnológica Centroamericana (R.M.D.), Tegucigalpa; National Institute of Neurology and Neurosurgery Manuel Velasco Suarez (M.E.A., I.E.M.-J., A.O., A.J.-P.) and General Hospital of Mexico (M.L.-R.), Mexico City; Universidade Federal de São Paulo, São Paulo (L.G., E.M.Y.); and the Instituto de Investigación Sanitaria-Jiménez Díaz Foundation, Autonomous University of Madrid and Biomedical Research Network Center on Rare Diseases, Madrid (J.M. Serratosa).

The New England Journal of Medicine
|March 15, 2018
PubMed
Summary

Genetic variants in the intestinal-cell kinase (ICK) gene are linked to juvenile myoclonic epilepsy (JME). This discovery sheds light on the genetic underpinnings of JME, including brain abnormalities and EEG polyspikes.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Juvenile myoclonic epilepsy (JME) has limited data on the genetic basis of seizure networks and microdysgenesis.
  • Understanding the genetic factors is crucial for diagnosing and treating JME.

Purpose of the Study:

  • To investigate the genetic cause of juvenile myoclonic epilepsy (JME).
  • To identify specific gene variants associated with JME and its associated neurological features.

Main Methods:

  • Exome sequencing in a JME-affected family and Sanger sequencing.
  • Screening of additional JME patients using DNA melting-curve analysis and targeted sequencing of the intestinal-cell kinase (ICK) gene.
  • In vitro functional assays and in vivo studies using knockout mice.

Main Results:

  • A heterozygous variant in ICK cosegregated with JME in a family.
  • Pathogenic ICK variants were identified in 7% of additional JME patients.
  • Four linked variants impaired key cellular processes, and Ick-deficient mice exhibited increased seizure susceptibility.

Conclusions:

  • Heterozygous ICK variants are a significant cause of juvenile myoclonic epilepsy.
  • ICK variants explain cellular mechanisms underlying microdysgenesis and EEG polyspike networks in JME.