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Expert Review of Molecular Diagnostics Volume 15, 2015 - Issue 12
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Special Report

The contribution of next generation sequencing to epilepsy genetics

Rikke S. MøllerDanish Epilepsy Centre, Dianalund, Denmark;Institute for Regional Health research, University of Southern Denmark, Odense, DenmarkCorrespondence[email protected]
,
Hans A. DahlAmplexa Genetics, Odense, Denmark
&
Ingo HelbigDepartment of Neuropediatrics, University Medical Center Schleswig-Holstein, Kiel, Germany;Division of Neurology, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA
Pages 1531-1538 | Published online: 13 Nov 2015

References

  • Papers of special note have been highlighted as:
  • • of interest
  • •• of considerable interest
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•• Showed new genes in the, genetically speaking, relatively homogenic Dravet Syndrome.

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• Nicely sums up the phenotypic and genetic spectrum of epilepsies.

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•• Interesting since these large scale studies identified new genes and provided a long list of potentially disease related genes.

•• Interesting since these large scale studies identified new genes and provided a long list of potentially disease related genes.

  • Lalani SR, Zhang J, Schaaf CP, et al. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am J Hum Genet. 2014;95:579–583.
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• First paper that demonstrated the utility of gene panels.

  • Bayat A, Hjalgrim H, Moller RS. The incidence of SCN1A-related Dravet syndrome in Denmark is 1:22,000: a population-based study from 2004 to 2009. Epilepsia. 2015;56:e36–e39.
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  • Chen WJ, Lin Y, Xiong ZQ, et al. Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia. Nat Genet. 2011;43:1252–1255.

• These 3 papers demonstrated how WES resolves a previous linkage finding and pinpoints the causative gene.

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• These 3 papers demonstrated how WES resolves a previous linkage finding and pinpoints the causative gene.

• These 3 papers demonstrated how WES resolves a previous linkage finding and pinpoints the causative gene.

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•• First gene panel paper on epileptic encephalopathies.

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