Table 1.
Malformations of cortical development with associated genes and clinical features
| Developmental stage | Cortical malformation | Genetic cause | Clinical features |
|---|---|---|---|
| Abnormal neurogenesis | |||
| Microcephaly | ASPM | Mental retardation, not generally associated with epilepsy, autosomal recessive inheritance | |
| Microcephalin | |||
| CDK5RAP2 | |||
| CENPJ | |||
| Hemimegalencephaly | Unknown | Mental retardation, early onset seizures (frequently intractable epilepsy), +/- neurocutaneous syndrome | |
| Focal cortical dysplasia | Unknown | Most common, focal and generalized Seizures | |
| Abnormal neuronal migration | |||
| Periventricular heterotopia | FLNA | Normal intelligence, adolescent onset seizures, X-linked disorder with male lethality | |
| ARFGEF2 | Mental retardation, microcephaly, autosomal recessive inheritance, rare | ||
| Subcortical band heterotopia | DCX | Subcortical band heterotopia in females, mental retardation, epilepsy, X-linked disorder | |
| Lissencephaly | LIS1 | Miller-Dieker syndrome (characteristic facial features), autosomal dominant inheritance | |
| DCX | Lissencephaly in males, X-linked | ||
| TUBA1A | Lissencephaly, clinical features similar those caused by LIS1 and DCX, de novo mutations | ||
| ARX | Associated with ambiguous genitalia, hypothalamic dysfunction, neonatal epilepsy, X-linked disorder | ||
| RELN | Associated with cerebellar hypoplasia, epilepsy, autosomal recessive inheritance | ||
| Abnormal arrest in neuronal migration | |||
| Cobblestone lissencephaly | Fukutin | Fukuyama congenital muscular dystrophy | |
| POMGnT1 | Muscle-eye-brain disease | ||
| POMT1 | Walker-Warburg Syndrome | ||
| Abnormal neuronal organization | |||
| Polymicrogyria | GPR56 | Bilateral frontoparietal polymicrogyria, Epilepsy | |
| Schizencephaly | EMX2 | Type 2 (open cleft) | |