Publications:

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 1892T>C

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences

Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ

Publication Date: 2022-01-25

Variant appearance in text: TSC2: 1892T>C

PubMed Link: 35163267

Variant Present in the following documents:

• Main text
• ijms-23-01344.pdf

View BVdb publication page

Somatic Mutations Activating the mTOR Pathway in Dorsal Telencephalic Progenitors Cause a Continuum of Cortical Dysplasias.

Cell Reports

D'Gama, Alissa M AM; Woodworth, Mollie B MB; Hossain, Amer A AA; Bizzotto, Sara S; Hatem, Nicole E NE; LaCoursiere, Christopher M CM; Najm, Imad I; Ying, Zhong Z; Yang, Edward E; Barkovich, A James AJ; Kwiatkowski, David J DJ; Vinters, Harry V HV; Madsen, Joseph R JR; Mathern, Gary W GW; Blümcke, Ingmar I; Poduri, Annapurna A; Walsh, Christopher A CA

Publication Date: 2017-12-26

Variant appearance in text: TSC2: L631P

PubMed Link: 29281825

Variant Present in the following documents:

• Main text

View BVdb publication page