Expanding the clinical spectrum of pediatric CASPR2 antibody-associated autoimmune encephalitis: a multicenter case series. [PDF]
Szumutku F +9 more
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Causal effects of plasma protein-protein ratios on lung cancer subtypes: A proteome-wide Mendelian randomization and mediation analysis. [PDF]
Geng X +7 more
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Effective Treatment of Anti-GAD65 Limbic Encephalitis-Associated Epilepsy Despite Delayed Immunotherapy: A Brief Report. [PDF]
Bughaith G, Mahdi G, Ashkanani M.
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Cardiometabolic disease is associated with distinct proteomic signatures of acute disease activity in multiple sclerosis. [PDF]
Okuda DT +12 more
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A Case of N-Methyl-D-Aspartate (NMDA) Autoimmune Encephalitis in a 34-Year-Old Man Thought to Have Schizophrenia. [PDF]
Amin R, Wilson M, Koontz M, Omar K.
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Clinical characteristics and prognosis of antibody-mediated autoimmune encephalitis: A single-center cohort study in Liuzhou, China. [PDF]
Liu Y +7 more
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Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2
New England Journal of Medicine, 2006Contactin-associated protein-like 2 (CASPR2) is encoded by CNTNAP2 and clusters voltage-gated potassium channels (K(v)1.1) at the nodes of Ranvier. We report a homozygous mutation of CNTNAP2 in Old Order Amish children with cortical dysplasia, focal epilepsy, relative macrocephaly, and diminished deep-tendon reflexes.
Matthew J Huentelman +2 more
exaly +3 more sources
The spectrum of anti-contactin-associated protein-like 2 (CASPR2) antibody-associated disease is expanding and the involvement of cerebellum was reported in the past few years. We report a 45-year-old male with chronically progressive cerebellar ataxia. CASPR2 antibodies were detected in his serum and cerebellar atrophy was observed on MRI.
Junwei Hao
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Contactin-associated genes are members of the neurexin superfamily that encode a group of transmembrane proteins that mediate cell-cell interactions in the nervous system. To study the human contactin-associated protein-like 2 gene (CNTNAP2), we have determined its complete DNA sequence and its genomic organization to comprise 25 exons spanning greater
Stephen W. Scherer, Kazuhiko Nakabayashi
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