Results 131 to 140 of about 35,737,382 (164)

Expanding the clinical spectrum of pediatric CASPR2 antibody-associated autoimmune encephalitis: a multicenter case series. [PDF]

open access: yesFront Immunol
Szumutku F   +9 more
europepmc   +1 more source

Cardiometabolic disease is associated with distinct proteomic signatures of acute disease activity in multiple sclerosis. [PDF]

open access: yesNeurotherapeutics
Okuda DT   +12 more
europepmc   +1 more source

Recessive Symptomatic Focal Epilepsy and Mutant Contactin-Associated Protein-like 2

New England Journal of Medicine, 2006
Contactin-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

Anti-contactin-associated protein-like 2 antibody-associated cerebellar ataxia: A case report and literature review

Journal of Neuroimmunology, 2021
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
exaly   +3 more sources

The Human Contactin-Associated Protein-like 2 Gene (CNTNAP2) Spans over 2 Mb of DNA at Chromosome 7q35

open access: yesGenomics, 2001
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
exaly   +3 more sources

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