N

R

NARDELLO , Rosaria

Last name: NARDELLO

First name: Rosaria

2015 (v1)

Publication

Metadata-only

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

Miceli, Francesco STRIANO, PASQUALE Soldovieri, Maria Virginia

No description

Uploaded on: April 14, 2023
2022 (v1)

Publication

Metadata-only

De novo GRIN2A variants associated with epilepsy and autism and literature review

Mangano, Giuseppe Donato Riva, Antonella Fontana, Antonina

N-methyl-D-aspartate receptors (NMDAR) are di-or tri-heterotetrameric ligand-gated ion channels composed of two obligate glycine-binding GluN1 subunits and two glutamate-binding GluN2 or GluN3 subunits, encoded by GRIN1, GRIN2A-D, and GRIN3A-B receptor genes respectively. Each NMDA receptor subtype has different temporal and spatial expression...

Uploaded on: February 14, 2024
2022 (v1)

Publication

Metadata-only

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Calì, Elisa Lin, Sheng-Jia Rocca, Clarissa

The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.

Uploaded on: February 14, 2024