CNTNAP2, contactin associated protein 2, 26047

N. diseases: 203; N. variants: 46
Disease: Isaacs syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Three patients had Netrin-1 receptor antibodies, two with neuromyotonia and concomitant CASPR2+LGI1 antibodies and one with spontaneous muscle overactivity without electromyography evidence of neuromyotonia. 30714278 2019
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Mechanisms of Caspr2 antibodies in autoimmune encephalitis and neuromyotonia. 29244234 2018
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE One patient with CASPR2 had neuromyotonia. 29264691 2018
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Although acquired autoimmune neuromyotonia (NMT) is associated with voltage-gated potassium channel (VGKC)-complex antibodies, to date there has been no systematic study of autoantibodies to the specific antigens leucine-rich glioma inactivated protein 1 (LGI1), contactin-associated protein 2 (CASPR2), and contactin 2 together with the full clinical syndrome, particularly pain and autonomic and central nervous system involvement. 30242309 2018
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Anti-CASPR2 antibodies have been associated not only with limbic encephalitis but also with neuromyotonia and Morvan syndrome. 27432809 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Contactin-associated protein-2 antibodies occur with neuromyotonia and thymoma with the Morvan's syndrome in addition to Netrin 1 receptor antibodies but may not be responsible for peripheral nerve hyperexcitability. 28682959 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Some patients are reported to be positive for CASPR2 antibody that may be one of the pathogenic autoantibodies in Isaacs syndrome. 28438465 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Autoantibodies against the extracellular domains of the voltage-gated potassium channel (VGKC) complex proteins, leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-2 (CASPR2), are found in patients with limbic encephalitis, faciobrachial dystonic seizures, Morvan's syndrome and neuromyotonia. 28115470 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Antibodies against Netrin-1 receptors (DCC and UNC5a) and Caspr2 often coexist and associate with thymoma in patients with neuromyotonia and myasthenia gravis. 28251919 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE We also discuss the existence of contactin-associated protein-like 2 (Caspr2) antibodies in NMT patients. 27957617 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE These include anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis which may present with orolingual facial dyskinesia and stereotyped movements, CRMP-5 IgG presenting with chorea, anti-Yo paraneoplastic cerebellar degeneration presenting with ataxia, anti-VGKC complex (Caspr2 antibodies) neuromyotonia, opsoclonus-myoclonus-ataxia syndrome, and muscle rigidity and episodic spasms (amphiphysin, glutamic acid decarboxylase, glycine receptor, GABA(A)-receptor associated protein antibodies) in stiff-person syndrome. 29097081 2017
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE Investigations of caspr2, an autoantigen of encephalitis and neuromyotonia. 21387375 2011
CUI: C0242287
Disease: Isaacs syndrome
Isaacs syndrome 		0.100 Biomarker disease BEFREE One patient with limbic encephalitis and antibodies against LGI1 also had antibodies against CASPR2, an autoantigen we identified in some patients with encephalitis and seizures, Morvan's syndrome, and neuromyotonia. 20580615 2010