Objective: DEPDC5 together with NPRL2 and NPRL3 forms the GATOR1 which plays an important role in the the\nmechanistic target of rapamycin (mTOR) pathway. Deregulation of mTOR signalling has been associated to various\nneurological conditions, including epilepsy. Variants in the gene encoding GATOR1 complex, especially in DEPDC5,\nhave been implicated in the pathogensis of several focal epilepsies. While there was little report on the\nelectroencephalogram (EEG) feature of DEPDC5 related epilepsy, we decided to investigate the specific EEG pattern\nand the prognosis of DEPDC5 related epilepsy.\nMethods: The records of 546 epilepsy patients with unknown causes who were admitted in Xijing Hospital and\nunderwent whole exome sequencing (WES) from 2015 to 2019 were retrospectively reviewed. Finally, the clinical\ndata of these 7 patients with DEPDC5 variants were collected in this study. We analyzed their clinical manifestations,\nEEG and magnetic resonance imaging (MRI).\nResults: Seven DEPDC5 variants, including six novel mutations, were identified in seven individuals with focal\nepilepsy. Among these patients, one had family history. Four showed specific interictal EEG patterns, periodic-like\nsharp waves or spike waves, were found in four patients. Five out of seven patients (71.4%) were well-controlled by\nanti-epilepsy drugs while two patients with sleep-related hypermotor epilepsy had either drug resistance or relapse\nof epilepsy.\nConclusion: DEPDC5 variants were related to focal epilepsy in patients with or without family history. The EEG\nabnormalities of DEPDC5 related epilepsy were heterogeneous among different patients, while periodic-like sharp\nwaves or spike waves might be the most characteristic interictal EEG pattern for DEPDC5 related epilepsies. In this\nstudy the prognosis of DEPDC5 related epilepsy was similar to other epilepsies. DEPDC5 variants may not predict\nthe prognosis so far.
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