Parental Mosaicism in “De Novo” Epileptic Encephalopathies
Open accessAbstract
Risk of Recurrence of Epileptic Encephalopathies In 10 of 120 family trios (consisting of a child with de novo epileptic encephalopathy and the child’s biologic parents), one parent was found to have mosaicism for the etiologic variant. This finding has implications for determining the risk of recurrence.
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Detection of low-level germline mosaicism in blood-derived DNA requires high-depth sequencing or specialised techniques, such as droplet digital polymerase chain reaction.
“Detection of low-level germline mosaicism in blood-derived DNA requires high-depth sequencing or specialised techniques, such as droplet digital polymerase chain reaction 175 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [175]
In “TO THE EDITOR” (page unavailable), the authors detected low-level parental mosaicism in blood or saliva using single-molecule molecular inversion probes and recommend targeted high-coverage testing. They did not test gonadal tissue or mention droplet digital polymerase chain reaction, so the specific example and direct detection of germline mosaicism are not supported. (LLM, conf=0.86)
Experimental — accuracy not yet measuredParental mosaicism places parents at an increased risk of having a second child with a DEE, as a small population of their sperm or ova carry the pathogenic variant.
“Parental mosaicism places parents at an increased risk of having a second child with a DEE, as a small population of their sperm or ova carry the pathogenic variant.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [175]
The TO THE EDITOR section links parental mosaicism to recurrence risk and reports affected siblings who shared a proband’s mutation. It says the authors tested blood or saliva to infer gonadal mosaicism, not sperm or ova. The claim’s explanation that a small population of gametes carries the variant is therefore more definite than the paper’s evidence. (LLM, conf=0.86)
Experimental — accuracy not yet measuredParents with mosaic levels <13% were unaffected and those with higher levels had febrile seizures or epilepsy.
“Parents with mosaic levels <13% were unaffected and those with higher levels had febrile seizures or epilepsy.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [175]
The TO THE EDITOR section reports that mosaicism levels broadly correlated with disease severity among four affected parents and that six families with unaffected parents had parental mosaicism. It does not establish a 13% cutoff separating unaffected parents from those with febrile seizures or epilepsy; 12.9% is reported as the mean mosaicism level, not a threshold. (LLM, conf=0.82)
Experimental — accuracy not yet measuredIn patients thought to have a de novo pathogenic variant, high-depth sequencing of parental blood or salivary samples found that 8% of patients had a parent with low-level mosaicism.
“In patients thought to have a de novo pathogenic variant, high-depth sequencing of parental blood or salivary samples found that 8% of patients had a parent with low-level mosaicism 175 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [175]
Sometimes, lower mosaicism levels are associated with milder disease.
“Sometimes, lower mosaicism levels are associated with milder disease 12,175,176 .”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [175]
8% of patients with a DEE thought to have a de novo pathogenic variant had a parent who was mosaic for their pathogenic variant.
“This study found that 8% of patients with a DEE thought to have a de novo pathogenic variant had a parent who was mosaic for their pathogenic variant, carrying significant reproductive counselling implications.”
From Developmental and epileptic encephalopathies (2024) · cites this paper as [175]
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References 5 · Cited by 139
- Authors
- Myers, C. T., Hollingsworth, G., Muir, A. M., Schneider, A. L., Thuesmunn, Z., Knupp, A., King, C., Lacroix, A., Mehaffey, M. G., Berkovic, S. F., Carvill, G. L., Sadleir, L. G., Scheffer, I. E., & Mefford, H. C.
- Affiliations
- University of Washington (US)
- The University of Melbourne (AU)
- University of Otago (NZ)
- Northwestern University (US)
- ORCID
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2018-04-26
- Volume
- 378
- Issue
- 17
- Pages
- 1646-1648
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- PMC
- PMC5966016
- OpenAlex
- W2803076988
- Cited by
- 139
- References
- 5
- Citations by year
- 2026: 7 · 2025: 13 · 2024: 19 · 2023: 9 · 2022: 22 · 2021: 27 · 2020: 16 · 2019: 19 · 2018: 7
- FWCI
- 13.58
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- New England Journal of Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Health and Medical Research Council of Australia
- National Institute of Neurological Disorders and Stroke (R01 NS069605)
- Health Research Council of New Zealand
- Cure Kids
- American Epilepsy Society (Postdoctoral Fellowship)
- Lennox-Gastaut Syndrome Foundation (Postdoctoral Fellowship)
- Dravet Syndrome Foundation (Postdoctoral Fellowship)
- Topics
- Health Sciences › Medicine › Psychiatry and Mental health › Epilepsy research and treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- parental mosaicism, recurrence risk, family trios, genetic variants
- MeSH terms
- Epilepsy, Female, Humans, Male, Mosaicism, Mutation, Parents, Seizures
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