Parental Mosaicism in “De Novo” Epileptic Encephalopathies

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 recur...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Carta
Iaith:Saesneg
Cyhoeddwyd: 2018
Mynediad Ar-lein:https://doi.org/10.1056/nejmc1714579
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