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DOI: 10.1055/s-0038-1648250
SEEG in ... Family
Publication History
Publication Date:
27 April 2018 (online)
We present a family with four members with focal epilepsy: two members with frontal epilepsy, one with frontotemporal epilepsy, and the fourth with focal onset seizures of unknown localization.
There are two children: a 12-year-old sister (index case) with onset of epilepsy at age 6 with left frontal focal epilepsy (daytime and night attacks) and her 16-year-old brother with onset of epilepsy at age 12 with right frontal focal epilepsy (also diurnal and nocturnal seizures). Their magnetic resonance imagings (even 3T ones) were normal and both children have a normal psychomotor development, but with mild academic difficulties, that may be in part due to exposure to Valproate in utero for the girl and a premature birth for the boy.
The 44-year-old mother of the children began her seizures at the age of 3 and has had a very drug-resistant epilepsy since then. She had two operations after stereo- encephalographic exploration at the age of 36 and 40 years and histopathological examination demonstrated a type I focal cortical dysplasia.
The 47-year-old mother's brother (uncle of the children) presented the onset of his epilepsy at age 14 and presented secondarily generalized focal onset seizures.
Genetic analysis allowed us to identify the presence of a 5 to 10 exons deletion of the NPRL3 gene, which belongs together with the DEPDC5 and NPRL2 genes to the GATOR1 complex, a negative regulator of the mTORC1 pathway.