Parental Mosaicism in “De Novo” Epileptic Encephalopathies

Parental Mosaicism in “De Novo” 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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Veröffentlicht in:The New England journal of medicine 2018-04, Vol.378 (17), p.1646-1648
Hauptverfasser: Myers, Candace T, Hollingsworth, Georgina, Muir, Alison M, Schneider, Amy L, Thuesmunn, Zoe, Knupp, Allison, King, Chontelle, Lacroix, Amy, Mehaffey, Michele G, Berkovic, Samuel F, Carvill, Gemma L, Sadleir, Lynette G, Scheffer, Ingrid E, Mefford, Heather C
Format: Artikel
Sprache:eng
Schlagworte:
Epilepsy - genetics
Female
Humans
Male
Mosaicism
Mutation
Parents
Seizures - genetics
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Beschreibung
Zusammenfassung: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.
ISSN:0028-4793
1533-4406
DOI:10.1056/NEJMc1714579