2026-08-20T06:00:42Zhttps://docta.ucm.es/rest/oai/request
oai:docta.ucm.es:20.500.14352/949602025-07-09T23:57:22Zcom_20.500.14352_14col_20.500.14352_15
Docta Complutense author Scott, Ricardo author Sánchez-Aguilera López, Alberto author Elst, Kim van author Lim, Lynette author Dehorter, Nathalie author Bae, Sung Eun author Bartolini, Giorgia author Peler, Elior author Kas, Martien J H author Bruining, Hilgo author Marín, Óscar 2024-01-24T08:57:36Z 2024-01-24T08:57:36Z 2017 Ricardo Scott, Alberto Sánchez-Aguilera, Kim van Elst, Lynette Lim, Nathalie Dehorter, Sung Eun Bae, Giorgia Bartolini, Elior Peles, Martien J H Kas, Hilgo Bruining, Oscar Marín. Loss of Cntnap2 Causes Axonal Excitability Deficits, Developmental Delay in Cortical Myelination, and Abnormal Stereotyped Motor Behavior. Cereb Cortex. 2019 Feb 1;29(2):586-597 (Epub 2017 Dec 28) 10.1093/cercor/bhx341 https://hdl.handle.net/20.500.14352/94960 1460-2199 https://doi.org/10.1093/cercor/bhx341 29300891 Contactin-associated protein-like 2 (Caspr2) is found at the nodes of Ranvier and has been associated with physiological properties of white matter conductivity. Genetic variation in CNTNAP2, the gene encoding Caspr2, has been linked to several neurodevelopmental conditions, yet pathophysiological effects of CNTNAP2 mutations on axonal physiology and brain myelination are unknown. Here, we have investigated mouse mutants for Cntnap2 and found profound deficiencies in the clustering of Kv1-family potassium channels in the juxtaparanodes of brain myelinated axons. These deficits are associated with a change in the waveform of axonal action potentials and increases in postsynaptic excitatory responses. We also observed that the normal process of myelination is delayed in Cntnap2 mutant mice. This later phenotype is a likely modulator of the developmental expressivity of the stereotyped motor behaviors that characterize Cntnap2 mutant mice. Altogether, our results reveal a mechanism linked to white matter conductivity through which mutation of CNTNAP2 may affect neurodevelopmental outcomes. eng Loss of Cntnap2 Causes Axonal Excitability Deficits, Developmental Delay in Cortical Myelination, and Abnormal Stereotyped Motor Behavior journal article 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