Varaico: Literature-Extracted Genetic Variants

Gene:ADAM22
Variant:p.C401Y
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ADAM22

NM_001324418.2:p.C401Y

Associated Papers

ADAM22 ethnic-specific variant reducing binding of membrane-associated guanylate kinases causes focal epilepsy and behavioural disorder.

Nosková L et al.

Brain Communications, 2023

Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy.

van der Knoop MM et al.

Brain : a Journal of Neurology, 2022

Insights into the mechanisms of epilepsy from structural biology of LGI1-ADAM22.

Yamagata A et al.

Cellular and Molecular Life Sciences : Cmls, 2020

Autozygome and high throughput confirmation of disease genes candidacy.

Maddirevula S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1

Structural insights into leucine-rich repeat-containing synaptic cleft molecules.

Yamagata A et al.

Current Opinion in Structural Biology, 2019

Structural basis of epilepsy-related ligand-receptor complex LGI1-ADAM22.

Yamagata A et al.

Nature Communications, 2018

The LGI1-ADAM22 protein complex in synaptic transmission and synaptic disorders.

Fukata Y et al.

Neuroscience Research, 2017

Dysfunctional ADAM22 implicated in progressive encephalopathy with cortical atrophy and epilepsy.

Muona M et al.

Neurology. Genetics, 2016

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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."