CH Aix-en-Provence, Hôpital La Timone, Marseille, Hôpital Henri-Gastaut, Centre Saint-Paul, Marseille, France
The identification of an etiology in children and adults with mental deficiency is a major challenge and needs a comprehensive clinical approach and multidisciplinary collaborations. Some genetic syndromes with intellectual disability may also be associated with specific dysmorphic features, behavioural patterns or electro-clinically recognizable epilepsy syndromes. Identifying the epilepsy syndrome may prove to be an important clue for the diagnosis of the associated genetic syndrome. Moreover, the implicated chromosomal regions may be useful targets when searching for epilepsy genes. We review and discuss available data on some genetic syndromes (Angelman syndrome, duplication of the 15q11-q13 region, Wolf-Hirschorn syndrome, ring chromosome 20, fragile X syndrome) also presenting specific epilepsy features.