GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

A novel mutation in PIGW causes glycosylphosphatidylinositol deficiency without hyperphosphatasia.

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

Phenotypic Variability from Benign Infantile Epilepsy to Ohtahara Syndrome Associated with a Novel Mutation in SCN2A.

The second report of a new hypomyelinating disease due to a defect in the VPS11 gene discloses a massive lysosomal involvement.