De Novo Mutations in Patients with Ataxic CP

Sonika Agarwal; Lisa Emrick

doi:10.15844/pedneurbriefs-29-8-5

De Novo Mutations in Patients with Ataxic CP

Pediatric Neurology Briefs

Volume 29 (2015): Issue 8

By: Sonika Agarwal and Lisa Emrick

Open Access

|Sep 2015

Abstract

As a part of a large study investigating childhood ataxias in the UK and Switzerland, Schnekenberg et al. analyzed the genetic associations with congenital cerebellar ataxia in 10 patients using either a targeted next generation sequencing panel of 118 genes or trio-based exome sequencing.

References

Parolin Schnekenberg R Perkins EM Miller JW Davies WI D'Adamo MC Pessia M De novo point mutations in patients diagnosed with ataxic cerebral palsy Brain 2015 138 Pt 7 1817 32 10.1093/brain/awv117 25981959
Open DOI Search in Google Scholar Back to article
de Ligt J Veltman JA Vissers LE Point mutations as a source of de novo genetic disease Curr Opin Genet Dev 2013 Jun 23 3 257 263 10.1016/j.gde.2013.01.007 23453690
Open DOI Search in Google Scholar Back to article
de Ligt J Willemsen MH van Bon BW Kleefstra T Yntema HG Kroes T Diagnostic exome sequencing in persons with severe intellectual disability N Engl J Med 2012 Nov 367 20 1921 1929 10.1056/NEJMoa1206524 23033978
Open DOI Search in Google Scholar Back to article
Hughes I Newton R Genetic aspects of cerebral palsy Dev Med Child Neurol 1992 Jan 34 1 80 86 10.1111/j.1469-8749.1992.tb08568.x 1544520
Open DOI Search in Google Scholar Back to article
Yang Y Muzny DM Xia F Niu Z Person R Ding Y Molecular findings among patients referred for clinical whole-exome sequencing JAMA 2014 Nov 312 18 1870 1879 10.1001/jama.2014.14601 25326635
Open DOI Search in Google Scholar Back to article
Lee RW Poretti A Cohen JS Levey E Gwynn H Johnston MV A diagnostic approach for cerebral palsy in the genomic era Neuromolecular Med 2014 Dec 16 4 821 844 10.1007/s12017-014-8331-9 25280894
Open DOI Search in Google Scholar Back to article

Articles in this issue

DOI: https://doi.org/10.15844/pedneurbriefs-29-8-5 | Journal eISSN: 2166-6482

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Language: English

Page range: 62 - 62

Submitted on: Aug 10, 2015

Accepted on: Aug 22, 2015

Published on: Sep 7, 2015

Published by: Pediatric Neurology Briefs Publishers

In partnership with: Paradigm Publishing Services

Keywords:

Cerebral Palsy,

Ataxia,

Genetics

© 2015 Sonika Agarwal, Lisa Emrick, published by Pediatric Neurology Briefs Publishers
This work is licensed under the Creative Commons Attribution 4.0 License.

Volume 29 (2015): Issue 8