Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly. [electronic resource]
- Neuron 04 2020
- 237-245.e8 p. digital
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
1097-4199
10.1016/j.neuron.2020.01.027 doi
Adolescent Adult Age of Onset Animals Centrosome--pathology Child Child, Preschool Chromosome Aberrations Classical Lissencephalies and Subcortical Band Heterotopias--diagnostic imaging Cytoskeletal Proteins--genetics Female Gene Knockdown Techniques Genetic Variation Heterozygote Humans Infant Magnetic Resonance Imaging Male Mice Mutation--genetics Oncogene Proteins, Fusion--genetics Pedigree Seizures--etiology Young Adult