Polymicrogyria is Associated With Pathogenic Variants in PTEN.

Diane D ShaoChristelle M AchkarAbbe LaiSiddharth SrivastavaRyan N DoanLance H RodanAllen Y Chennull nullAnnapurna PoduriEdward YangChristopher A Walsh

Published in: Annals of neurology (2020)

Malformations of cortical development, PMG in particular, represent an under-recognized phenotype associated with PTEN pathogenic variants and may have an association with cognitive and motor delays. Epilepsy was infrequent compared to the previously reported high risk of epilepsy in patients with PMG. ANN NEUROL 2020;88:1153-1164.

Keyphrases

copy number
pi k akt
cell proliferation
signaling pathway
gene expression
neural network
dna methylation