Lissencephaly due to TUBA1A gene mutation (Q68028): Difference between revisions
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Lissencefalia (LIS) devido à mutação TUBA1A é uma anomalia congênita do desenvolvimento cortical devido à migração neuronal anormal envolvendo laminação neocortical e hipocampal, corpo caloso, cerebelo e tronco cerebral. Um amplo espectro clínico pode ser observado, desde crianças com epilepsia e déficit intelectual e motor graves até casos com disgenesia cerebral grave no período pré-natal levando à interrupção da gravidez devido à gravidade do prognóstico. | |||
| description / en | description / en | ||
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. | |||
Revision as of 15:52, 14 August 2026
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1006889224 |
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| English | Lissencephaly due to TUBA1A gene mutation |
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis. |
