Parental Mosaicism in “De Novo” Epileptic Encephalopathies
医学
癫痫
遗传学
精神科
生物
作者
Candace T. Myers,Georgina Hollingsworth,Alison M. Muir,Amy Schneider,Zoe Thuesmunn,Allison Knupp,Chontelle King,Amy J. LaCroix,Michele G. Mehaffey,Samuel F. Berkovic,Gemma L. Carvill,Lynette G. Sadleir,Ingrid E. Scheffer,Heather C Mefford
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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