Molecular genetic decoding of malformations of cortical development

is likely to be affected. As novel genes and variants associated with MCD are discovered using next-generation sequencing (NGS) technology, an updated classification system for MCD has become more reliant on NGS findings [1,4]. Identification of disease-causing mutations, including inherited or de novo mutation, in MCD has revealed the molecular genetic basis of clinical manifestations [5-9]. As an example, recently identified genes responsible for microcephaly were found to encode DNA repair systems and centrosomal proteins that are crucial for regulating cell division [5,10,11]. The current challenge is to validate the increasing number of disease-causing mutations that are being identified by NGS. Molecular genetic decoding of malformations of cortical development