{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T08:45:42Z","timestamp":1785919542962,"version":"3.56.0"},"reference-count":15,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"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":["American J of Med Genetics Pt A"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Acute confusional migraine (ACM) is an uncommon pediatric migraine variant characterized by transient confusion and agitation, nonspecific electroencephalographic changes, and normal bloodwork and neuroimaging. We present the first case of ACM in a child with Zhu\u2013Tokita\u2013Takenouchi\u2013Kim (ZTTK) syndrome (OMIM: 617140), a rare multisystem disorder caused by a pathogenic variant in the\n                    <jats:italic>SON<\/jats:italic>\n                    gene, clinically characterized by global developmental delay, intellectual disability, hypotonia, distinctive craniofacial dysmorphic features, and structural brain anomalies. Emerging evidence suggests that\n                    <jats:italic>SON<\/jats:italic>\n                    haploinsufficiency may contribute to a broader neuroinflammatory phenotype, potentially increasing susceptibility to cortical excitability, which is one of the proposed causes of ACM. We hypothesize a direct mechanistic link whereby\n                    <jats:italic>SON\u2010<\/jats:italic>\n                    related splicing defects lower the cortical excitability threshold, predisposing individuals to episodic hyperexcitability syndromes such as ACM. This report expands the known neurological phenotype of ZTTK syndrome. Given the nature of the communication impairments among patients with ZTTK syndrome, ACM symptoms may be underreported or mistaken for epileptic events. Future studies are needed to validate this association and elucidate the underlying molecular pathways.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.70269","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T07:55:01Z","timestamp":1785916501000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Expanding the Neurological Phenotype of\n                    <scp>ZTTK<\/scp>\n                    Syndrome: A Case of Recurrent Acute Confusional Migraine"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2636-8941","authenticated-orcid":false,"given":"Eugenio","family":"Zapata\u2010Aldana","sequence":"first","affiliation":[{"name":"Center for Genomic Medicine Parc Taul\u00ed Hospital Universitari, Institut d'Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT\u2010CERCA), Universitat Aut\u00f2noma de Barcelona  Sabadell Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-8708-4912","authenticated-orcid":false,"given":"Joan Petanas","family":"Argemi","sequence":"additional","affiliation":[{"name":"Pediatric Neurology Parc Taul\u00ed Hospital Universitari, Institut d'Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT\u2010CERCA), Universitat Aut\u00f2noma de Barcelona  Sabadell Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-3081-1617","authenticated-orcid":false,"given":"Mar\u00eda Jos\u00e9 V\u00e1zquez","family":"Ares","sequence":"additional","affiliation":[{"name":"Centro Nacional de Gen\u00e9tica M\u00e9dica (CENAGEM)  Buenos Aires Argentina"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7314-5962","authenticated-orcid":false,"given":"Anna","family":"Ruiz\u2010Nello","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Parc Taul\u00ed Hospital Universitari, Institut d'Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT\u2010CERCA), Universitat Aut\u00f2noma de Barcelona  Sabadell Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2127-2238","authenticated-orcid":false,"given":"Nino","family":"Spataro","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Parc Taul\u00ed Hospital Universitari, Institut d'Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT\u2010CERCA), Universitat Aut\u00f2noma de Barcelona  Sabadell Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4680-881X","authenticated-orcid":false,"given":"Victor","family":"Mart\u00ednez\u2010Glez","sequence":"additional","affiliation":[{"name":"Center for Genomic Medicine Parc Taul\u00ed Hospital Universitari, Institut d'Investigaci\u00f3 i Innovaci\u00f3 Parc Taul\u00ed (I3PT\u2010CERCA), Universitat 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