To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.
The landscape of epilepsy - related GATOR1 variants / Baldassari S, P.F.. - In: GENETICS IN MEDICINE. - ISSN 1098-3600. - ELETTRONICO. - (2018), pp. 0-0. [10.1038/s41436-018-0060-2]
The landscape of epilepsy - related GATOR1 variants
Guerrini R;Balestrini S;
2018
Abstract
To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.
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