Work

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Year: 2018

Type: article

Study design: Observational Study

Abstract: 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.

Source: New England Journal of Medicine

DOI: 10.1056/nejmc1714579

Authors: Candace T. Myers, Georgina Hollingsworth, Alison M. Muir, Amy L. Schneider, Zoe Thuesmunn, Allison Knupp, Chontelle King, Amy Lacroix, Michele G. Mehaffey, Samuel F. Berkovic, Gemma L. Carvill, Lynette G. Sadleir, Ingrid E. Scheffer, Heather C. Mefford

Institutions: University of Washington, The University of Melbourne, University of Otago, Northwestern University

Language: English

Topic: Epilepsy research and treatment

Subfield: Psychiatry and Mental health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: green

Funders: American Epilepsy Society, Dravet Syndrome Foundation, Cure Kids, National Health and Medical Research Council, Health Research Council of New Zealand, National Institute on Aging, National Institute of Neurological Disorders and Stroke

Awards: G1265869611, G3180509009

OpenAlex ID: W2803076988

FWCI: 11.97

Cites: 5

Cited by: 141

Related to: 10