Parental Mosaicism in 'De Novo' Epileptic Encephalopathies

Autor:	Georgina Hollingsworth, Lynette G. Sadleir, Chontelle King, Gemma L. Carvill, Amy L Schneider, Samuel F. Berkovic, Ingrid E. Scheffer, Candace T. Myers, Amy Lacroix, Heather C Mefford, Michele G. Mehaffey, Zoe Thuesmunn, Allison Knupp, Alison M. Muir
Rok vydání:	2018
Předmět:	0301 basic medicine Male Parents Epilepsy business.industry Mosaicism Epileptic encephalopathy General Medicine Bioinformatics medicine.disease Article 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Seizures Mutation (genetic algorithm) Mutation medicine Humans Female business 030217 neurology & neurosurgery
Zdroj:	The New England journal of medicine. 378(17)
ISSN:	1533-4406
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ecb11c26d805ed7ef37c1ccad1ad5189 https://pubmed.ncbi.nlm.nih.gov/29694806 Zobrazit plný text záznamu