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Cortical Malformations
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Although the inheritance pattern is well, established in some of the conditions described above, counselling in individual cases depends on the precise diagnosis, family history and laboratory investigations where available.
Classical lissencephaly/subcortical band heterotopia is commonly caused by deletions/mutations of the *LIS1 *gene on chromosome 17p, or the DCX gene on the X-chromosome. Recently mutations in the TUBA1A gene have been identified in some patients.
The inheritance observed in cobblestone lissencephaly and associated syndromes is autosomal recessive. WWS has been associated with mutations in the POMT1, POMT2 and FKRP genes, MEB with mutations in the POMGnT1 gene, and FCMD with mutations in the Fukutin gene.
Prenatal diagnosis
Prenatal diagnosis using molecular (genetic) tests is available in some cases. In certain circumstances ultrasound or MRI investigations during pregnancy may be helpful.
Other cortical malformations
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