[MIM 604 364, 617 116, 617 118]

Rare. Autosomal dominant transmission with incomplete penetrance and variable expressivity of a mutation in the DEPDC5 (22q11 - q12), NPRL2 or NPRL3 gene. These genes code for subunits of the  GATOR1 (DEP domain-containing 5, nitrogen permease regulator-like 2 ou 3) complex, a negative regulator of mTORC1 (mechanistic target of rapamycin complex). mTORC1 is a kinase complex playing a crucial role in neuronal functions. The mutations lead to the excessive activation of mTORC1, also found in tuberous sclerosis of Bourneville.

Clinical presentation: very variable within the same family, but each individual has a particular type of focal crisis. Some individuals are asymptomatic, while others suffer from refractory epilepsy. MRI is usually normal but images of cortical dysplasia have been described.

Treatment: antiepileptic; rapamycin on an experimental basis.

Anesthetic implications:

epilepsy of variable severity

References :

-        Depondt C.
Epilepsie focale familiale ŕ foyers variables.
Neurone  2017 ; 22 :21-5.

Updated: December 2018