[HTML][HTML] Somatic mosaicism and neurodevelopmental disease

AM D'Gama, CA Walsh - Nature neuroscience, 2018 - nature.com
Traditionally, we have considered genetic mutations that cause neurodevelopmental
diseases to be inherited or de novo germline mutations. Recently, we have come to …

Epilepsy surgery in children and adults

P Ryvlin, JH Cross, S Rheims - The Lancet Neurology, 2014 - thelancet.com
Epilepsy surgery is the most effective way to control seizures in patients with drug-resistant
focal epilepsy, often leading to improvements in cognition, behaviour, and quality of life …

Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against …

L Jehi, N Jette, CS Kwon, CB Josephson… - …, 2022 - Wiley Online Library
Epilepsy surgery is the treatment of choice for patients with drug‐resistant seizures. A timely
evaluation for surgical candidacy can be life‐saving for patients who are identified as …

Somatic mutations activating the mTOR pathway in dorsal telencephalic progenitors cause a continuum of cortical dysplasias

AM D'Gama, MB Woodworth, AA Hossain, S Bizzotto… - Cell reports, 2017 - cell.com
Focal cortical dysplasia (FCD) and hemimegalencephaly (HME) are epileptogenic
neurodevelopmental malformations caused by mutations in mTOR pathway genes. Deep …

[图书][B] Developmental neuropsychology: A clinical approach

V Anderson, E Northam, J Wrennall - 2018 - taylorfrancis.com
This fully updated edition of Developmental Neuropsychology: A Clinical Approach
addresses key issues in child neuropsychology with a unique emphasis on evidence …

Association of MTOR mutations with developmental brain disorders, including megalencephaly, focal cortical dysplasia, and pigmentary mosaicism

GM Mirzaa, CD Campbell, N Solovieff, CP Goold… - JAMA …, 2016 - jamanetwork.com
Importance Focal cortical dysplasia (FCD), hemimegalencephaly, and megalencephaly
constitute a spectrum of malformations of cortical development with shared neuropathologic …

Assessment and surgical outcomes for mild type I and severe type II cortical dysplasia: a critical review and the UCLA experience

JT Lerner, N Salamon, JS Hauptman, TR Velasco… - …, 2009 - Wiley Online Library
Recent findings on the clinical, electroencephalography (EEG), neuroimaging, and surgical
outcomes are reviewed comparing patients with Palmini type I (mild) and type II (severe) …

Epilepsy surgery for children and adolescents: evidence-based but underused

JH Cross, C Reilly, EG Delicado, ML Smith… - The Lancet Child & …, 2022 - thelancet.com
Paediatric epilepsy surgery is an increasingly used evidence-based management option
with low risks for complications. Developments in neuroimaging techniques and other …

Incomplete resection of focal cortical dysplasia is the main predictor of poor postsurgical outcome

P Krsek, B Maton, P Jayakar, P Dean, B Korman… - Neurology, 2009 - AAN Enterprises
Background: Focal cortical dysplasia (FCD) is recognized as the major cause of focal
intractable epilepsy in childhood. Various factors influencing postsurgical seizure outcome …

FDG-PET/MRI coregistration improves detection of cortical dysplasia in patients with epilepsy

N Salamon, J Kung, SJ Shaw, J Koo, S Koh, JY Wu… - Neurology, 2008 - AAN Enterprises
Objective: Patients with cortical dysplasia (CD) are difficult to treat because the MRI
abnormality may be undetectable. This study determined whether fluorodeoxyglucose (FDG) …