2016
DOI: 10.1159/000448639
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Genetic Basis of Brain Malformations

Abstract: Malformations of cortical development (MCD) represent a major cause of developmental disabilities, severe epilepsy, and reproductive disadvantage. Genes that have been associated to MCD are mainly involved in cell proliferation and specification, neuronal migration, and late cortical organization. Lissencephaly-pachygyria-severe band heterotopia are diffuse neuronal migration disorders causing severe global neurological impairment. Abnormalities of the LIS1, DCX, ARX, RELN, VLDLR, ACTB, ACTG1, TUBG1, KIF5C, KI… Show more

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Cited by 172 publications
(168 citation statements)
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“…All of these abnormalities may be involved in the development of early Zika‐related epilepsy. In lissencephalies of the other causes, especially those of genetic origin, there is a similar abnormal neuronal migration, with loss of cortical architecture and macroscopic simplification of the cortical mantle; however, gliosis and calcifications are not observed . We hypothesize that these differences may alter clinical manifestations, at least in early ages, during which the onset of Zika‐related seizures was not as frequent.…”
Section: Discussionmentioning
confidence: 90%
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“…All of these abnormalities may be involved in the development of early Zika‐related epilepsy. In lissencephalies of the other causes, especially those of genetic origin, there is a similar abnormal neuronal migration, with loss of cortical architecture and macroscopic simplification of the cortical mantle; however, gliosis and calcifications are not observed . We hypothesize that these differences may alter clinical manifestations, at least in early ages, during which the onset of Zika‐related seizures was not as frequent.…”
Section: Discussionmentioning
confidence: 90%
“…Classical lissencephaly is recognized as a neuronal migration disorder. The migration and differentiation of neurons are critical to appropriate electrophysiological functions of the cortex . The incidence of seizures in these cases is approximately 90%, with typical onset before 6 months of age.…”
Section: Discussionmentioning
confidence: 99%
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“…Some children with a CP phenotype have a cerebral malformation as the primary cause of their neurological syndrome, which is readily recognized on brain imaging. There are now a number of causative genes associated with disorders of neuronal migration and cortical development, such as lissencephaly, polymicrogyria, schizencephaly, and focal cortical dysplasia . In severe cases, associated clinical features typically include seizures and intellectual disability …”
Section: Approach To Diagnosismentioning
confidence: 99%