Parental Mosaicism in "De Novo" Epileptic Encephalopathies

doi:10.1056/NEJMc1714579

. 2018 Apr 26;378(17):1646-1648.

doi: 10.1056/NEJMc1714579.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies

Affiliations

¹ University of Washington, Seattle, WA.
² University of Melbourne, Melbourne, VIC, Australia.
³ University of Otago, Wellington, New Zealand.
⁴ Northwestern University Feinberg School of Medicine, Chicago, IL.
⁵ University of Washington, Seattle, WA [email protected].

PMID: 29694806
PMCID: PMC5966016
DOI: 10.1056/NEJMc1714579

Parental Mosaicism in "De Novo" Epileptic Encephalopathies

Candace T Myers et al. N Engl J Med. 2018.

. 2018 Apr 26;378(17):1646-1648.

doi: 10.1056/NEJMc1714579.

Affiliations

¹ University of Washington, Seattle, WA.
² University of Melbourne, Melbourne, VIC, Australia.
³ University of Otago, Wellington, New Zealand.
⁴ Northwestern University Feinberg School of Medicine, Chicago, IL.
⁵ University of Washington, Seattle, WA [email protected].

PMID: 29694806
PMCID: PMC5966016
DOI: 10.1056/NEJMc1714579

No abstract available

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Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.
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Patterns of mosaicism for sequence and copy-number variants discovered through clinical deep sequencing of disease-related genes in one million individuals.
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Epilepsy in families: Age at onset is a familial trait, independent of syndrome.
Ellis CA, Churilov L, Epstein MP, Xie SX, Bellows ST, Ottman R, Berkovic SF; Epi4K Consortium. Ellis CA, et al. Ann Neurol. 2019 Jul;86(1):91-98. doi: 10.1002/ana.25499. Epub 2019 May 20. Ann Neurol. 2019. PMID: 31050039 Free PMC article.
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References

1. Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21. - PMC - PubMed
1. Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13:565–75. - PubMed
1. Hiatt JB, Pritchard CC, Salipante SJ, O’Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res. 2013;23:843–54. - PMC - PubMed
1. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. - PMC - PubMed
1. Xu X, Yang X, Wu Q, et al. Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with Dravet syndrome. Hum Mutat. 2015;36:861–72. - PMC - PubMed

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[1] Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21. - PMC - PubMed

[2] Epi4K Consortium, Epilepsy Phenome/Genome Project. De novo mutations in epileptic encephalopathies. Nature. 2013;501:217–21. - PMC - PubMed

[3] Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13:565–75. - PubMed

[4] Veltman JA, Brunner HG. De novo mutations in human genetic disease. Nat Rev Genet. 2012;13:565–75. - PubMed

[5] Hiatt JB, Pritchard CC, Salipante SJ, O’Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res. 2013;23:843–54. - PMC - PubMed

[6] Hiatt JB, Pritchard CC, Salipante SJ, O’Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Res. 2013;23:843–54. - PMC - PubMed

[7] Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. - PMC - PubMed

[8] Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24. - PMC - PubMed

[9] Xu X, Yang X, Wu Q, et al. Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with Dravet syndrome. Hum Mutat. 2015;36:861–72. - PMC - PubMed

[10] Xu X, Yang X, Wu Q, et al. Amplicon resequencing identified parental mosaicism for approximately 10% of “de novo” SCN1A mutations in children with Dravet syndrome. Hum Mutat. 2015;36:861–72. - PMC - PubMed

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Parental Mosaicism in "De Novo" Epileptic Encephalopathies

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Parental Mosaicism in "De Novo" Epileptic Encephalopathies

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