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All had bilateral perisylvian and perirolandic polymicrogyria, while some also had malformations of the hippocampus (malrotation and dysplasia), cerebellum (heterotopias and asymmetric aplasia), corpus callosum dysgenesis, and brainstem asymmetric dysplasia. Exome sequencing showed that all four patients had a novel variant (c.1597C&gt;T:p.Leu533Phe) on the <jats:italic>KIF4A<\/jats:italic> gene on chromosome X. We discuss how this variant is possibly pathogenic and could explain the reported phenotype.<\/jats:p>","DOI":"10.1002\/ajmg.a.63860","type":"journal-article","created":{"date-parts":[[2024,9,13]],"date-time":"2024-09-13T13:59:09Z","timestamp":1726235949000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["X\u2010Linked Bilateral Polymicrogyria With Epilepsy and\u00a0Intellectual Disability Associated With a Novel <scp><i>KIF4A<\/i><\/scp> Variant"],"prefix":"10.1002","volume":"197","author":[{"given":"Naomi","family":"Laflamme","sequence":"first","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Val\u00e9rie","family":"Triassi","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Bioinformatics Program, Department of Biochemistry and Molecular Medicine Universit\u00e9 de Montr\u00e9al  Montr\u00e9al Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurence","family":"Martineau","sequence":"additional","affiliation":[{"name":"Neurology Division Centre Hospitalier Universitaire de Qu\u00e9bec, Universit\u00e9 Laval  Quebec City Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7446-0312","authenticated-orcid":false,"given":"D\u00e8nahin Hinnoutondji","family":"Toffa","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laurent","family":"L\u00e9tourneau\u2010Guillon","sequence":"additional","affiliation":[{"name":"Division of Radiology Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM)  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie","family":"Laplante","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patrick","family":"Cossette","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"},{"name":"Division of Radiology Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM)  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c9ric","family":"Samarut","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martine","family":"T\u00e9treault","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dang Khoa","family":"Nguyen","sequence":"additional","affiliation":[{"name":"Centre de Recherche du Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CRCHUM)  Montreal Quebec Canada"},{"name":"Department of Neuroscience Universit\u00e9 de Montr\u00e9al  Montreal Quebec Canada"},{"name":"Neurology Division Centre Hospitalier de l'Universit\u00e9 de Montr\u00e9al (CHUM)  Montreal Quebec Canada"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2024,9,13]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/0471142905.hg0720s76"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.1080\/19336918.2020.1810939"},{"key":"e_1_2_10_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2018.07.017"},{"key":"e_1_2_10_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature15393"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-009-0644-2"},{"key":"e_1_2_10_7_1","unstructured":"Biesecker L. 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