Polymicrogyria is Associated With Pathogenic Variants in <scp><i>PTEN</i></scp>

202024 citationsJournal Articlegreen Open Access

Authors

Diane D. Shao · Boston Children's Hospital

Christelle Moufawad El Achkar · Boston Children's Hospital

Abbe Lai · Boston Children's Hospital

Siddharth Srivastava · Boston Children's Hospital

Ryan N. Doan · Boston Children's Hospital

Lance H. Rodan · Boston Children's Hospital

Allen Y. Chen

Abstract

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.

Topics & Keywords

PI3K/AKT/mTOR signaling in cancer Protein Tyrosine Phosphatases Coagulation, Bradykinin, Polyphosphates, and Angioedema

Publication Details

Published in: Annals of Neurology

Volume 88, Issue 6, pp. 1153-1164

DOI: 10.1002/ana.25904

Field-Weighted Citation Impact: 1.17

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Polymicrogyria is Associated With Pathogenic Variants in <scp><i>PTEN</i></scp>

Authors

Abstract

Topics & Keywords

Publication Details