Varaico: Literature-Extracted Genetic Variants

Gene:CNTN2
Variant:p.W168delFs
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CNTN2

NM_005076.5:p.W168delFs

Associated Papers

Gene-gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy.

Lin ZJ et al.

Neurogenetics, 2024

Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.

Corbett MA et al.

Epilepsia, 2023

Case Report: A Case of Epileptic Disorder Associated With a Novel CNTN2 Frameshift Variant in Homozygosity due to Maternal Uniparental Disomy.

Chen W et al.

Frontiers in Genetics, 2021

Autosomal dominant cortical tremor, myoclonus and epilepsy.

Striano P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2016

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities.

Akinyemi RO et al.

Journal of the Neurological Sciences, 2016

Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.

Cen ZD et al.

Seizure, 2016

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

Striano P et al.

Brain : a Journal of Neurology, 2013

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

Stogmann E et al.

Brain : a Journal of Neurology, 2013

[Fut1 gene mutation for para-bombay blood type individual in Fujian Province of China].

Huang HB et al.

Zhongguo Shi Yan Xue Ye Xue Za Zhi, 2010

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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."