دورية أكاديمية
Neurologic phenotypes associated with COL4A1 / 2 mutations
| العنوان: | Neurologic phenotypes associated with COL4A1 / 2 mutations |
|---|---|
| المؤلفون: | Zagaglia, Sara, Selch, Christina, Radić Nišević, Jelena, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M. |
| المصدر: | https://www.neurology.org/lookup/doi/10.1212/WNL.0000000000006567Test ; Neurology ; Volume 91 ; Issue 22 ; ISSN 0028-3878 (Print) ; ISSN 1526-632X (Online. |
| سنة النشر: | 2018 |
| المجموعة: | Repository of the University of Rijeka |
| مصطلحات موضوعية: | BIOMEDICINA I ZDRAVSTVO. Kliničke medicinske znanosti. Neurologija, BIOMEDICINE AND HEALTHCARE. Clinical Medical Sciences. Neurology, Adolescent, Adult, Child, Preschool, Collagen Type IV, Epilepsy, Female, Genetic Association Studies, Humans, Male, Mutation, Nervous System Diseases, Young Adult |
| الوصف: | Objective To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. Methods We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations. Results Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most common phenotype. EEG typically showed focal epileptiform discharges in the context of other abnormalities, including generalized sharp waves or slowing. In 46.4% of new patients with focal seizures, porencephalic cysts on brain MRI colocalized with the area of the focal epileptiform discharges. In patients with porencephalic cysts, brain MRI frequently also showed extensive white matter abnormalities, consistent with the finding of diffuse cerebral disturbance on EEG. Notably, we also identified a subgroup of patients with epilepsy as their main clinical feature, in which brain MRI showed nonspecific findings, in particular periventricular leukoencephalopathy and ventricular asymmetry. Analysis of 15 pedigrees suggested a worsening of the severity of clinical phenotype in succeeding generations, particularly when maternally inherited. Mutations associated with epilepsy were spread across COL4A1 and a clear genotype–phenotype correlation did not emerge. Conclusion COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutations may have important clinical consequences, while for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Sveučilište u Rijeci. Medicinski fakultet. Katedra za pedijatriju.; University of Rijeka. Faculty of Medicine. Department of Pediatrics.; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7612Test; https://urn.nsk.hr/urn:nbn:hr:184:309197Test; https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7612/datastream/FILE0Test |
| الإتاحة: | https://doi.org/10.1212/WNL.0000000000006567Test https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7612Test https://urn.nsk.hr/urn:nbn:hr:184:309197Test https://www.unirepository.svkri.uniri.hr/islandora/object/medri:7612/datastream/FILE0Test |
| حقوق: | info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.BBACCEC3 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |