Brain somatic mosaicism in epilepsy: Bringing results back to the clinic.

D'Gama, Alissa M; Poduri, Annapurna

D'Gama, Alissa M; Poduri, Annapurna.

Affiliation

D'Gama AM; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA 02115, United States of America; Department of Pediatrics, Harvard Medical School, Boston, MA 02115, United States of America; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02115, United States of America.
Poduri A; Epilepsy Genetics Program, Boston Children's Hospital, Boston, MA 02115, United States of America; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, United States of America; Department of Neurology, Harvard Medical School, Boston, MA 02115, United States of America. Electronic address: annapurna.poduri@childrens.harvard.edu.

Neurobiol Dis ; 181: 106104, 2023 06 01.

Article in En | MEDLINE | ID: mdl-36972791

Subject(s)

Drug Resistant Epilepsy; Epilepsies, Partial; Epilepsy; Humans; Mosaicism; Epilepsy/genetics; Epilepsy/surgery; Brain/surgery; Mutation; Drug Resistant Epilepsy/genetics; Drug Resistant Epilepsy/surgery

Key words

DNA; Epilepsy; Genetic testing; Mosaic variants; Next generation sequencing; Precision medicine; Somatic mosaicism

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Epilepsies, Partial / Epilepsy / Drug Resistant Epilepsy Limits: Humans Language: En Journal: Neurobiol Dis Journal subject: NEUROLOGIA Year: 2023 Type: Article Affiliation country: United States

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