Exploring the neurological features of individuals with germline PTEN variants: A multicenter study.

Andrew DhawanSarah BaitamouniDarren LiuRobyn M BuschPatricia KlaasThomas W FrazierSiddharth SrivastavaSumit ParikhGary E HsichNeil R FriedmanDavid M RitterAntonio Y HardanJulian A Martinez Mustafa SahinCharis Eng

Published in: Annals of clinical and translational neurology (2024)

This prospective, longitudinal study highlights the wide neurological spectrum seen in young individuals with PHTS. ASD is common in PHTS, comorbid with epilepsy, and allied health services are used universally. Our findings inform care discussions with families about neurological outcomes in PHTS.

Keyphrases

healthcare
autism spectrum disorder
palliative care
cell proliferation
cerebral ischemia
copy number
quality improvement
pi k akt
metabolic syndrome
oxidative stress
chronic pain
health insurance
subarachnoid hemorrhage