PMC Links for OMIM (Select 190197) - PMC

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Items: 3

Select item 102854581.

Whole exome sequencing identified five novel variants in CNTN2, CARS2, ARSA, and CLCN4 leading to epilepsy in consanguineous families

Angham Abdulrhman Abdulkareem, Qaiser Zaman, Hamza Khan, Sabar Khan, Gauhar Rehman, Nabeel Tariq, Mashal Ahmad, Muhammad Owais, Najumuddin, Osama Yousef Muthaffar, Fehmida Bibi, Rin Khang, Seung Woo Ryu, Muhammad Imran Naseer, Musharraf Jelani

Front Genet. 2023; 14: 1185065. Published online 2023 Jun 8. doi: 10.3389/fgene.2023.1185065

PMCID:: PMC10285458

Abstract Article PDF–4.5M

Select item 85317162.

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

Wenjie Chen, Fei Chen, Yiping Shen, Zhixian Yang, Jiong Qin

Front Genet. 2021; 12: 743833. Published online 2021 Oct 8. doi: 10.3389/fgene.2021.743833

PMCID:: PMC8531716

Abstract Article PDF–2.4M

Select item 26888703.

Contactin-2/TAG-1-directed autoimmunity is identified in multiple sclerosis patients and mediates gray matter pathology in animals

Tobias Derfuss, Khyati Parikh, Sviataslau Velhin, Magdalena Braun, Emily Mathey, Markus Krumbholz, Tania Kümpfel, Anja Moldenhauer, Christoph Rader, Peter Sonderegger, Walter Pöllmann, Christian Tiefenthaller, Jan Bauer, Hans Lassmann, Hartmut Wekerle, Domna Karagogeos, Reinhard Hohlfeld, Christopher Linington, Edgar Meinl

Proc Natl Acad Sci U S A. 2009 May 19; 106(20): 8302–8307. Published online 2009 Apr 28. doi: 10.1073/pnas.0901496106