Arx expansion mutation perturbs cortical development by augmenting apoptosis without activating innate immunity in a mouse model of X-linked infantile spasms syndrome

by Meagan S. Siehr, Cory A. Massey, Jeffrey L. Noebels
Published 2020-03-01

NOVA-dependent regulation of cryptic NMD exons controls synaptic protein levels after seizure

by Taesun Eom, Chaolin Zhang, Huidong Wang, Kenneth Lay, John Fak, Jeffrey L Noebels, Robert B Darnell
Published 2013-01-01

Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX)

by Karagh E. Loring, Tessa Mattiske, Kristie Lee, Aneta Zysk, Matilda R. Jackson, Jeffrey L. Noebels, Cheryl Shoubridge
Published 2021-06-01

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

by Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Published 2016-01-01

Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

by Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald
Published 2016-01-01

β spectrin-dependent and domain specific mechanisms for Na+ channel clustering

by Cheng-Hsin Liu, Ryan Seo, Tammy Szu-Yu Ho, Michael Stankewich, Peter J Mohler, Thomas J Hund, Jeffrey L Noebels, Matthew N Rasband
Published 2020-05-01

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

by Maoxue Tang, Guangping Gao, Carlos B. Rueda, Hang Yu, David N. Thibodeaux, Tomoyuki Awano, Kristin M. Engelstad, Maria-Jose Sanchez-Quintero, Hong Yang, Fanghua Li, Huapeng Li, Qin Su, Kara E. Shetler, Lynne Jones, Ryan Seo, Jonathan McConathy, Elizabeth M. Hillman, Jeffrey L. Noebels, Darryl C. De Vivo, Umrao R. Monani
Published 2017-01-01