{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T23:15:29Z","timestamp":1773098129991,"version":"3.50.1"},"reference-count":35,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T00:00:00Z","timestamp":1770508800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T00:00:00Z","timestamp":1770508800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/100000890","name":"National Multiple Sclerosis Society","doi-asserted-by":"publisher","award":["RG\u20102001\u201036023"],"award-info":[{"award-number":["RG\u20102001\u201036023"]}],"id":[{"id":"10.13039\/100000890","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","award":["R01NS050356"],"award-info":[{"award-number":["R01NS050356"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000057","name":"National Institute of General Medical Sciences","doi-asserted-by":"publisher","award":["R01 GM 063074"],"award-info":[{"award-number":["R01 GM 063074"]}],"id":[{"id":"10.13039\/100000057","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01GM063074, R01NS050356 and T32\u2010HL007446"],"award-info":[{"award-number":["R01GM063074, R01NS050356 and T32\u2010HL007446"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100008635","name":"University of Texas Health Science Center at San Antonio","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100008635","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    encodes the Contactin\u2010Associated Protein 1 (CNTNAP1), also known as Caspr1, which is a transmembrane protein critical for nervous system function. CNTNAP1 is localized to the paranodal regions of all myelinated axons, flanking either side of the node of Ranvier. It plays a vital role in axonal domain organization and is essential for the propagation of action potentials along nerve fibers. This specialized arrangement of axonal domains, which contain distinct molecular complexes, enables saltatory conduction and significantly increases the speed and efficiency of neuronal communication. To date, there are 47 children with biallelic\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    variants who have been reported exhibiting a wide spectrum of phenotypes including congenital hypomyelinating neuropathy, hypotonia, and joint contractures among other clinical features. In this review, we compiled all previously published cases and detailed the specific genetic variants of every known individual, including clinical manifestations. Additionally, we present seven new cases of individuals identified through direct collaborations with clinicians and families, bringing the total to 54 individuals who harbor biallelic variants in\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    . This review and the additional case studies demonstrate that while children with\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    mutations can present with a broad spectrum of symptoms, there is a recurrence of key clinical features across these cases. These key features commonly include respiratory distress, generalized hypotonia, hypomyelination, intellectual disabilities, and reduced life expectancy. These newly described cases provide valuable insights into the phenotypic diversity of\n                    <jats:italic>CNTNAP1<\/jats:italic>\n                    variants, deepening our understanding of the clinical impact in patients with this rare genetic disorder.\n                  <\/jats:p>","DOI":"10.1002\/mus.70160","type":"journal-article","created":{"date-parts":[[2026,2,9]],"date-time":"2026-02-09T05:39:30Z","timestamp":1770615570000},"page":"517-526","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Human\n                    <i>CNTNAP1<\/i>\n                    Variants Associated With Severe Neurological Deficits: Additional Cases and Literature Review"],"prefix":"10.1002","volume":"73","author":[{"given":"Lacey B.","family":"Sell","sequence":"first","affiliation":[{"name":"Neuroscience Graduate Program University of Texas Health Science Center  San Antonio Texas USA"},{"name":"Department of Cellular and Integrative Physiology University of Texas Health Science Center  San Antonio Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Derek","family":"Garcia","sequence":"additional","affiliation":[{"name":"Department of Cellular and Integrative Physiology University of Texas Health Science Center  San Antonio Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alexandra","family":"Holl\u00e1","sequence":"additional","affiliation":[{"name":"National Institute of Children's Diseases, Neonatal Intensive Care Clinic  Bratislava Slovakia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilana","family":"Chilton","sequence":"additional","affiliation":[{"name":"Overland Park Regional Medical Center  Overland Park Kansas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seth","family":"DeVries","sequence":"additional","affiliation":[{"name":"Department of Pediatric Epilepsy and Neurology Helen DeVos Children's Hospital  Grand Rapids Michigan USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Mar\u00eda","family":"G\u00f3mez\u2010Moreno","sequence":"additional","affiliation":[{"name":"Puerta del Mar University Hospital  C\u00e1diz Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Lubi\u00e1n\u2010Guti\u00e9rrez","sequence":"additional","affiliation":[{"name":"Puerta del Mar University Hospital  C\u00e1diz Spain"},{"name":"Biomedical Research and Innovation Institute of C\u00e1diz (INiBICA) Research Unit Puerta del Mar University Hospital  C\u00e1diz Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Shi","sequence":"additional","affiliation":[{"name":"Department of Cellular and Integrative Physiology University of Texas Health Science Center  San Antonio Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0989-1498","authenticated-orcid":false,"given":"Manzoor A.","family":"Bhat","sequence":"additional","affiliation":[{"name":"Neuroscience Graduate Program University of Texas Health Science Center  San Antonio Texas USA"},{"name":"Department of Cellular and Integrative Physiology University of Texas Health Science Center  San Antonio Texas USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2026,2,8]]},"reference":[{"key":"e_1_2_13_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(98)01267-3"},{"key":"e_1_2_13_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00294-X"},{"key":"e_1_2_13_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.23197"},{"key":"e_1_2_13_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-015-2081-1"},{"key":"e_1_2_13_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrn2148"},{"key":"e_1_2_13_7_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201308116"},{"key":"e_1_2_13_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(01)00296-3"},{"key":"e_1_2_13_9_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200712154"},{"key":"e_1_2_13_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.22015"},{"key":"e_1_2_13_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature11007"},{"key":"e_1_2_13_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(03)00628-7"},{"key":"e_1_2_13_13_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.150.3.F97"},{"key":"e_1_2_13_14_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt618"},{"key":"e_1_2_13_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000127606.93772.3A"},{"key":"e_1_2_13_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0498-382"},{"key":"e_1_2_13_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/s100480000101"},{"key":"e_1_2_13_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2023.113274"},{"key":"e_1_2_13_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.70040"},{"key":"e_1_2_13_20_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000000144"},{"key":"e_1_2_13_21_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnen\/nlw093"},{"key":"e_1_2_13_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2016.142"},{"key":"e_1_2_13_23_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073818776157"},{"key":"e_1_2_13_24_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.24650"},{"key":"e_1_2_13_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2017.02.006"},{"key":"e_1_2_13_26_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.25416"},{"key":"e_1_2_13_27_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0110-x"},{"key":"e_1_2_13_28_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.480"},{"key":"e_1_2_13_29_1","doi-asserted-by":"publisher","DOI":"10.1155\/2020\/8795607"},{"key":"e_1_2_13_30_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2018.12.014"},{"key":"e_1_2_13_31_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.26658"},{"key":"e_1_2_13_32_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-020-0839-9"},{"key":"e_1_2_13_33_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.135697"},{"issue":"2","key":"e_1_2_13_34_1","first-page":"194","article-title":"Analysis 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