The Neurogenetics laboratory is interested in the genetic mechanisms underlying epilepsy and malformations of the cerebral cortex. The malformations of the cerebral cortex represent a major cause of developmental disabilities, severe epilepsy and reproductive disadvantage. The advent of high resolution MRI techniques has facilitated the identification of a large group of cortical malformation phenotypes. Several malformation syndromes caused by abnormal cortical development have been recognized and specific causative gene defects have been identified.

The clinical and genetic studies performed in our laboratory have contributed to the definition of a number of malformations of the cerebral cortex and epileptic syndromes and to establish relevant genotype−phenotype correlations. In particular, the Neurogenetic laboratory performs the mutation analysis, with DHPLC and direct sequencing, of many genes involved in malformations of the cerebral cortex and/or epilepsy.

Pathologies studied in the Neurogenetics Laboratory:

#OMIM Reference Gene (#OMIM)
Severe myoclonic epilepsy (Dravet syndrome) #607208 SCN1A (*182389)
Lissencephaly (LIS) #607432 PAFAH1B1 / LIS1 (*601545)
Miller-Dieker Syndrome (MDS) #607432 PAFAH1B1 / LIS1 (*601545)
Periventricular nodular heterotopia (PNH) #300049 FLNA (*300017)
X-linked lissencephaly (XLAG) #300215 ARX (*300382)
Bilateral Frontoparietal Polymicrogyria (BFPP) #606854 GPR56 (*604110)
Bilateral Perisylvian Polymicrogyria (BPP) #300388 SRPX2 (#300642)