The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

doi:10.1016/j.ebiom.2020.102896

Comment

. 2020 Aug:58:102896.

doi: 10.1016/j.ebiom.2020.102896. Epub 2020 Jul 21.

The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

Thomas F Hansen¹, Rikke S Møller²

Affiliations

¹ Danish Headache Center, Department of Neurology, Rigshospitalet Glostrup, Valdemar Hansens vej 1-23, 2600 Glostrup, Denmark; Center for Protein Research, Copenhagen University, Copenhagen, Denmark. Electronic address: [email protected].
² Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Kolonivej 1, 4293 Dianalund, Denmark; Department of Regional Health Services, University of Southern Denmark, Odense, Denmark. Electronic address: [email protected].

PMID: 32702638
PMCID: PMC7374607
DOI: 10.1016/j.ebiom.2020.102896

Comment

The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

Thomas F Hansen et al. EBioMedicine. 2020 Aug.

. 2020 Aug:58:102896.

doi: 10.1016/j.ebiom.2020.102896. Epub 2020 Jul 21.

Authors

Thomas F Hansen¹, Rikke S Møller²

Affiliations

¹ Danish Headache Center, Department of Neurology, Rigshospitalet Glostrup, Valdemar Hansens vej 1-23, 2600 Glostrup, Denmark; Center for Protein Research, Copenhagen University, Copenhagen, Denmark. Electronic address: [email protected].
² Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Centre, Filadelfia, Kolonivej 1, 4293 Dianalund, Denmark; Department of Regional Health Services, University of Southern Denmark, Odense, Denmark. Electronic address: [email protected].

PMID: 32702638
PMCID: PMC7374607
DOI: 10.1016/j.ebiom.2020.102896

No abstract available

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References

1. Strug L.J., Clarke T., Chiang T., Chien M., Baskurt Z., Li W. Centrotemporal sharp wave EEG trait in Rolandic epilepsy maps to elongator protein complex 4 (ELP4) Eur J Hum Genet. 2009;17(9):1171–1181. http://www.nature.com/articles/ejhg2008267 Available from: - PMC - PubMed
1. Lal D., Reinthaler E.M., Schubert J., Muhle H., Riesch E., Kluger G. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014;75(5):788–792. http://doi.wiley.com/10.1002/ana.24127 Available from: - DOI - PubMed
1. Lal D., Reinthaler E.M., Altmüller J., Toliat M.R., Thiele H., Nürnberg P. RBFOX1 and RBFOX3 mutations in Rolandic epilepsy. PLoS One. 2013;8(9):e73323. http://www.ncbi.nlm.nih.gov/pubmed/24039908 Available from: - PMC - PubMed
1. Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.-.H.M., Regan B.M. 16p11.2 600kb duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet. 2014;23(22):6069–6080. https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddu306 Available from: - DOI - PubMed
1. Lemke J.R., Lal D., Reinthaler E.M., Steiner I., Nothnagel M., Alber M. Mutations in GRIN2A cause idiopathic focal epilepsy with Rolandic spikes. Nat Genet. 2013;45(9):1067–1072. http://www.nature.com/articles/ng.2728 Available from: - PubMed

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[1] Strug L.J., Clarke T., Chiang T., Chien M., Baskurt Z., Li W. Centrotemporal sharp wave EEG trait in Rolandic epilepsy maps to elongator protein complex 4 (ELP4) Eur J Hum Genet. 2009;17(9):1171–1181. http://www.nature.com/articles/ejhg2008267 Available from: - PMC - PubMed

[2] Strug L.J., Clarke T., Chiang T., Chien M., Baskurt Z., Li W. Centrotemporal sharp wave EEG trait in Rolandic epilepsy maps to elongator protein complex 4 (ELP4) Eur J Hum Genet. 2009;17(9):1171–1181. http://www.nature.com/articles/ejhg2008267 Available from: - PMC - PubMed

[3] Lal D., Reinthaler E.M., Schubert J., Muhle H., Riesch E., Kluger G. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014;75(5):788–792. http://doi.wiley.com/10.1002/ana.24127 Available from: - DOI - PubMed

[4] Lal D., Reinthaler E.M., Schubert J., Muhle H., Riesch E., Kluger G. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann Neurol. 2014;75(5):788–792. http://doi.wiley.com/10.1002/ana.24127 Available from: - DOI - PubMed

[5] Lal D., Reinthaler E.M., Altmüller J., Toliat M.R., Thiele H., Nürnberg P. RBFOX1 and RBFOX3 mutations in Rolandic epilepsy. PLoS One. 2013;8(9):e73323. http://www.ncbi.nlm.nih.gov/pubmed/24039908 Available from: - PMC - PubMed

[6] Lal D., Reinthaler E.M., Altmüller J., Toliat M.R., Thiele H., Nürnberg P. RBFOX1 and RBFOX3 mutations in Rolandic epilepsy. PLoS One. 2013;8(9):e73323. http://www.ncbi.nlm.nih.gov/pubmed/24039908 Available from: - PMC - PubMed

[7] Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.-.H.M., Regan B.M. 16p11.2 600kb duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet. 2014;23(22):6069–6080. https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddu306 Available from: - DOI - PubMed

[8] Reinthaler E.M., Lal D., Lebon S., Hildebrand M.S., Dahl H.-.H.M., Regan B.M. 16p11.2 600kb duplications confer risk for typical and atypical Rolandic epilepsy. Hum Mol Genet. 2014;23(22):6069–6080. https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/ddu306 Available from: - DOI - PubMed

[9] Lemke J.R., Lal D., Reinthaler E.M., Steiner I., Nothnagel M., Alber M. Mutations in GRIN2A cause idiopathic focal epilepsy with Rolandic spikes. Nat Genet. 2013;45(9):1067–1072. http://www.nature.com/articles/ng.2728 Available from: - PubMed

[10] Lemke J.R., Lal D., Reinthaler E.M., Steiner I., Nothnagel M., Alber M. Mutations in GRIN2A cause idiopathic focal epilepsy with Rolandic spikes. Nat Genet. 2013;45(9):1067–1072. http://www.nature.com/articles/ng.2728 Available from: - PubMed

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The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

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The impact of low-risk genetic variants in self-limited epilepsy with centrotemporal spikes aka Rolandic epilepsy

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