{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T20:30:48Z","timestamp":1790973048429,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:00:00Z","timestamp":1756339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:00:00Z","timestamp":1756339200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>MAP1B<\/jats:italic>\n                    (microtubule\u2010associated protein 1B) encodes a cytoskeletal regulator critical for neuronal migration, axon guidance, and cortical circuit formation. Disease\u2010causing variants (DCVs) in\n                    <jats:italic>MAP1B<\/jats:italic>\n                    have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG). However, the phenotypic and neuroimaging spectrum associated with\n                    <jats:italic>MAP1B<\/jats:italic>\n                    \u2010related disease remains incompletely defined. We describe seven affected individuals from three unrelated families with pathogenic\n                    <jats:italic>MAP1B<\/jats:italic>\n                    variants. Clinical, neuroimaging, and genetic data were analyzed in the context of emerging literature to delineate the pathogenic mechanisms and phenotypic variability associated with\n                    <jats:italic>MAP1B<\/jats:italic>\n                    dysfunction. All individuals carried loss of function\n                    <jats:italic>MAP1B<\/jats:italic>\n                    variants. Clinical features included global developmental delay, intellectual disability, behavioural dysregulation, and focal epilepsy. Neuroimaging revealed anteriorly predominant PVNH in four of five cases with neuroimaging available. These findings reinforce\n                    <jats:italic>MAP1B<\/jats:italic>\n                    's central role in cytoskeletal regulation, neuronal positioning, and synaptic connectivity. Functional data from animal and cell models support a mechanism involving impaired microtubule stabilization, altered growth cone dynamics, and dysregulated axon branching. Our case series expands the clinical and radiological phenotype associated with\n                    <jats:italic>MAP1B<\/jats:italic>\n                    \u2010related disorders and highlights its position as a key cytoskeletal regulator in human corticogenesis. Systematic genotype\u2013phenotype correlation and functional studies are needed to inform diagnostic interpretation and explore therapeutic avenues in\n                    <jats:italic>MAP1B<\/jats:italic>\n                    \u2010associated disease.\n                  <\/jats:p>","DOI":"10.1111\/cge.70059","type":"journal-article","created":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T11:30:31Z","timestamp":1756380631000},"page":"558-563","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["<i>MAP1B<\/i>\n                    Variants Disrupt Neuronal Migration: Insights From Three Novel Families"],"prefix":"10.1111","volume":"109","author":[{"given":"Jessica","family":"Archer","sequence":"first","affiliation":[{"name":"Hunter Genetics  Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matt","family":"Edwards","sequence":"additional","affiliation":[{"name":"Hunter Genetics  Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas","family":"Macdougall","sequence":"additional","affiliation":[{"name":"In Focus Radiology  Wallsend New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Baxter","sequence":"additional","affiliation":[{"name":"Hunter Genetics  Waratah New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Himanshu","family":"Goel","sequence":"additional","affiliation":[{"name":"Hunter Genetics  Waratah New South Wales Australia"},{"name":"University of Newcastle  Callaghan New South Wales Australia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,28]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0896-6273(89)90036-6"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1684\/epd.2021.1258"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1276"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/dneu.22178"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.040162"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s44318-024-00050-3"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2014.02.038"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jbc.2024.107792"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1007281"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-05595-6"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61280"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000207532"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M111.336024"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2771-18.2019"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436-018-0140-3"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0123106"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1172\/jci.insight.136046"}],"container-title":["Clinical 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