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.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.