Lissencephaly type 1 due to doublecortin gene mutation (Q94691): Difference between revisions

Type 1 lissencephaly due to doublecortin (DCX) gene mutations is a semi-dominant X-linked anomaly of neuronal migration characterised by intellectual deficiency and seizures that are more severe in male patients. In boys, there is pachygyria or agyria that results in swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation. Female patients display a less severe malformation referred to as ''double cortex'' or subcortical laminar heterotopia and present with clinical signs of variable severity ranging from mild epilepsy, beginning in childhood or adolescence with difficulties at school, to refractory epileptic seizures and severe intellectual deficiency.