{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T07:01:46Z","timestamp":1775113306675,"version":"3.50.1"},"reference-count":16,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,12,18]],"date-time":"2022-12-18T00:00:00Z","timestamp":1671321600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001823","name":"Ministerstvo \u0160kolstv\u00ed, Ml\u00e1de\u017ee a T\u011blov\u00fdchovy","doi-asserted-by":"publisher","award":["LX22NPO5107"],"award-info":[{"award-number":["LX22NPO5107"]}],"id":[{"id":"10.13039\/501100001823","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NU21\u201008\u201000228"],"award-info":[{"award-number":["NU21\u201008\u201000228"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003243","name":"Ministerstvo Zdravotnictv\u00ed Cesk\u00e9 Republiky","doi-asserted-by":"publisher","award":["NV19\u201004\u201000369"],"award-info":[{"award-number":["NV19\u201004\u201000369"]}],"id":[{"id":"10.13039\/501100003243","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Epilepsia Open"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Fetal intracranial hemorrhage represents a rare event with an estimated prevalence of 1:10\u2009000 pregnancies. We report a patient diagnosed prenatally with intracranial hemorrhage and ventriculomegaly carrying a novel, previously unreported, likely pathogenic variant in <jats:italic>COL4A1<\/jats:italic>. At the gestational age of 27\u2009weeks, dilation of lateral ventricles was detected during a routine prenatal ultrasound scan, confirmed by prenatal MRI at 30\u2009+\u00a03\u2009weeks of gestation. Prenatal examinations included amniocentesis with conventional G\u2010band karyotyping and arrayCGH, and maternal testing for TORCH and parvovirus B19 infections. Virtual gene panel based on whole\u2010exome sequencing data was performed postnatally. At the age of 2.5\u2009months, the patient manifested epileptic seizures that remain difficult to control. Postnatal MRI showed partial thalamic fusion and polymicrogyria, in addition to severe enlargement of lateral ventricles, multiple deposits of hemosiderin in cerebral and cerebellar hemispheres, and thin optic nerve and chiasma. Virtual gene panel based on whole\u2010exome sequencing data led to a detection of a de novo previously unreported <jats:italic>in\u2010frame<\/jats:italic> deletion NM_001845.5:c.4688_4711del in <jats:italic>COL4A1<\/jats:italic> located in the highly conserved NC1 domain initiating collagen helix assembly. The presented case lies one a more severe end of the COL4A1 mutation\u2010related disease spectrum, manifesting as fetal intracranial bleeding, malformation of cortical development, drug\u2010resistant epilepsy, and developmental delay.<\/jats:p>","DOI":"10.1002\/epi4.12681","type":"journal-article","created":{"date-parts":[[2022,12,12]],"date-time":"2022-12-12T08:35:07Z","timestamp":1670834107000},"page":"211-216","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["<scp>COL4A1<\/scp> mutation\u2010related disorder presenting as fetal intracranial bleeding, hydrocephalus, and polymicrogyria"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8448-2833","authenticated-orcid":false,"given":"Barbora","family":"Straka","sequence":"first","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mark\u00e9ta","family":"Vl\u010dkov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zuzana","family":"Lib\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbora","family":"He\u0159manovsk\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin","family":"Kyn\u010dl","sequence":"additional","affiliation":[{"name":"Department of Radiology, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jana","family":"Dor\u0148\u00e1kov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Neonatal Unit, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jakub","family":"T\u00e1borsk\u00fd","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pavel","family":"Kr\u0161ek","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena","family":"Musilov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Paediatric Neurology, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Janota","sequence":"additional","affiliation":[{"name":"Department of Obstetrics and Gynaecology, Neonatal Unit, Second Faculty of Medicine Charles University and Motol University Hospital  Prague Czech Republic"},{"name":"Department of Pathological Physiology, First Faculty of Medicine Charles University Prague  Czech Republic"},{"name":"Department of Neonatology Thomayer University Hospital  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miroslava","family":"Bala\u0161\u010dakov\u00e1","sequence":"additional","affiliation":[{"name":"Department of Biology and Medical Genetics, Second Faculty of Medicine Charles University and Motol University Hospital, Full Member of the ERN EpiCARE  Prague Czech Republic"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,12,18]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/uog.191"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajog.2020.08.183"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.210"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41582-020-0395-6"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa174"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/epi.16854"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/9781119013112"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006686"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejpn.2019.02.006"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.10.004"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000006567"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-021-00880-3"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200032"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1109418"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/dds346"}],"container-title":["Epilepsia 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