1. Lissencephaly: Update on diagnostics and clinical management
- Author
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Matti Koenig, Nataliya Di Donato, and William B. Dobyns
- Subjects
Mri imaging ,Lissencephaly ,Classical Lissencephalies and Subcortical Band Heterotopias ,Bioinformatics ,03 medical and health sciences ,Epilepsy ,0302 clinical medicine ,SUBCORTICAL BAND HETEROTOPIA ,medicine ,Humans ,In patient ,Cerebral Cortex ,0303 health sciences ,business.industry ,Pachygyria ,030305 genetics & heredity ,General Medicine ,medicine.disease ,Magnetic Resonance Imaging ,3. Good health ,Mutation ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,business ,030217 neurology & neurosurgery - Abstract
Lissencephaly represents a spectrum of rare malformations of cortical development including agyria, pachygyria and subcortical band heterotopia. The progress in molecular genetics has led to identification of 31 lissencephaly-associated genes with the overall diagnostic yield over 80%. In this review, we focus on clinical and molecular diagnosis of lissencephaly and summarize the current knowledge on histopathological changes and their correlation with the MRI imaging. Additionally we provide the overview of clinical follow-up recommendations and available data on epilepsy management in patients with lissencephaly.
- Published
- 2021
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