LAMC3

Anni Saarela1,2, Oskari Timonen2, Jarkko Kirjavainen1

  • 1Department of Pediatric Neurology, Kuopio Epilepsy Center., Kuopio University Hospital. Full Member of ERN EpiCARE., Kuopio, Finland.

概括

递归的LAMC3突变会导致皮质形的. 这项研究在四名患者中发现了一种新的LAMC3变异,揭示了比以前理解的更为多样化的临床情况.