Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Tsai, Meng-Han

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