Varaico: Literature-Extracted Genetic Variants

Gene:NEDD4L
Variant:p.E271A
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NEDD4L

NM_001144967.3:p.E271A

Associated Papers

Nedd4-2-dependent regulation of astrocytic Kir4.1 and Connexin43 controls neuronal network activity.

Altas B et al.

The Journal of Cell Biology, 2024

C2-lacking isoform of Nedd4-2 regulates excitatory synaptic strength through GluA1 ubiquitination-independent mechanisms.

Zhu J et al.

Journal of Neurochemistry, 2019

A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.

George AJ et al.

Frontiers in Genetics, 2018

29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1

Epilepsy-associated gene Nedd4-2 mediates neuronal activity and seizure susceptibility through AMPA receptors.

Zhu J et al.

Plos Genetics, 2017

Investigation of the possible association of NEDD4-2 (NEDD4L) gene with idiopathic photosensitive epilepsy.

Vanli-Yavuz EN et al.

Acta Neurologica Belgica, 2015

NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity.

Dibbens LM et al.

Genes, Brain, and Behavior, 2007

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."