Neuropediatrics
DOI: 10.1055/a-2067-5096
1 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
,
Stefania Della Vecchia *1 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
,
2 Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy
,
Domenico Montanaro
3 U.O.s. Dipartimentale e Servizio Autonomo di Risonanza Magnetica, IRCCS Stella Maris Foundation, Pisa, Italy
,
Anna Rita Ferrari
1 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy
› Author Affiliations Funding This work has been partially supported by grant-RC and the 5 × 1000 voluntary contributions, Italian Ministry of Health.DEPDC5 is an upstream repressor of the mechanistic target of rapamycin pathway via the GATOR-1 complex. Pathogenic variants causing loss of function typically result in familial focal epilepsy with variable foci. Neuroimaging may either be normal or show brain malformations. Lesional and nonlesional cases may be present within the same family. Here, we describe a parent–child dyad affected by a truncating DEPDC5 pathogenic variant (c.727C > T; p.Arg243*), analyze the epilepsy clinical course, and describe neuroimaging characteristics from a 3T brain magnetic resonance imaging. Despite sharing the same variant, patients diverged both in terms of epilepsy severity and neuroimaging features. Surprisingly, the mother is still suffering from drug-resistant seizures and has normal neuroimaging, while the child has been experiencing prolonged seizure freedom notwithstanding a bottom-of-sulcus focal cortical dysplasia. An increasing gradient of severity has been proposed for families with GATOR1-related epilepsies. We confirm clinical and neuroradiological expressivities are variable and also suggest the prognostication of epilepsy outcome may be particularly difficult. The epilepsy outcome could partially be independent from brain structural abnormalities.
Keywords mTOR - brain MRI - seizures - focal cortical dysplasia - germinal variants - pathogenic variants*These authors contributed equally to this work.
Publication HistoryReceived: 16 August 2022
Accepted: 29 March 2023
Accepted Manuscript online:
01 April 2023
Article published online:
27 April 2023
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