Ontology highlight
ABSTRACT:
SUBMITTER: Chung C
PROVIDER: S-EPMC9961399 | biostudies-literature | 2023 Feb
REPOSITORIES: biostudies-literature
Nature genetics 20230112 2
Malformations of cortical development (MCD) are neurological conditions involving focal disruptions of cortical architecture and cellular organization that arise during embryogenesis, largely from somatic mosaic mutations, and cause intractable epilepsy. Identifying the genetic causes of MCD has been a challenge, as mutations remain at low allelic fractions in brain tissue resected to treat condition-related epilepsy. Here we report a genetic landscape from 283 brain resections, identifying 69 m ...[more]