Neuronal migration disorders: Clinic and molecular genetics of lissencephalies

Uyanik, G. and Hehr, U. and Aigner, L. and Winkler, Juergen (2003) Neuronal migration disorders: Clinic and molecular genetics of lissencephalies. AKTUELLE NEUROLOGIE, 30 (7). pp. 328-334. ISSN 0302-4350, 1438-9428

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Abstract

Lissencephalies are a. clinically and genetically heterogeneous group of cerebral malformations characterized by the lack of cortical organization due to impaired neuronal migration during embryogenesis. Lissencephalies are divided into isolated forms and syndromic forms that are associated with additional cerebral malformations and multi-organ dysfunction. Clinically, epileptic seizures as well as mental retardation are present in affected patients. Several genes were recently identified to be causally linked to different forms of isolated lissencephalies and systematic mutational analysis may reveal new lissencephally associated genes.

Item Type: Article
Uncontrolled Keywords: CONGENITAL MUSCULAR-DYSTROPHY; CEREBRAL CORTICAL DEVELOPMENT; SUBCORTICAL BAND HETEROTOPIA; LINKED MENTAL-RETARDATION; WALKER-WARBURG-SYNDROME; ABSENT CORPUS-CALLOSUM; DOUBLE-CORTEX SYNDROME; PERIVENTRICULAR HETEROTOPIA; AMBIGUOUS GENITALIA; MUTATIONS;
Subjects: 600 Technology > 610 Medical sciences Medicine
Divisions: Medicine > Lehrstuhl für Neurologie
Depositing User: Petra Gürster
Date Deposited: 08 Jul 2021 09:27
Last Modified: 08 Jul 2021 09:27
URI: https://pred.uni-regensburg.de/id/eprint/38615

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