Hehr, U. and Schuierer, G. (2011) Genetic Assessment of Cortical Malformations. NEUROPEDIATRICS, 42 (2). pp. 43-50. ISSN 0174-304X
Full text not available from this repository. (Request a copy)Abstract
Malformations of cortical development comprise a clinically and etiologically heterogeneous group of distinct structural abnormalities of the cerebral cortex, commonly identified during MR imaging of patients with seizure disorders and/or developmental delay. MR imaging is crucial for further classification and together with additional clinical information and family history guiding specific genetic testing, which today is an integral part of the interdisciplinary diagnostic work-up and allows identification of an underlying genetic alteration in a significant subset of patients. Results of genetic testing may provide important prognostic information and subsequently support prospective therapeutic decisions. Furthermore, genetic forms of cortical malformations may be associated with a significantly increased recurrence risk for further siblings or other relatives and require genetic counselling of the family on individual risks and the options of prenatal or even preimplantation genetic diagnosis.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | PERIVENTRICULAR NODULAR HETEROTOPIA; SUBCORTICAL BAND HETEROTOPIA; EYE-BRAIN DISEASE; CONGENITAL MUSCULAR-DYSTROPHY; PHENOTYPIC HETEROGENEITY; TUBEROUS SCLEROSIS; TUBA1A MUTATIONS; SPLICE MUTATION; CEREBRAL-CORTEX; WALKER-WARBURG; cortical malformations; genetic testing; lissencephaly; subcortical band heterotopias; nodular heterotopias; polymicrogyria |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik Medicine > Lehrstuhl für Röntgendiagnostik |
| Depositing User: | Petra Gürster |
| Date Deposited: | 29 Apr 2020 09:58 |
| Last Modified: | 29 Apr 2020 09:58 |
| URI: | https://pred.uni-regensburg.de/id/eprint/20970 |
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