UNASSIGNED: We describe a case of @entity43689 -associated @entity302 and @entity4790 in a @entity1 with a de novo pathogenic mutation. This @entity1 is unique in being the first reported male with this phenotype, and we propose that this genetic variant may represent a mutation hotspot that characterizes a unique phenotype. This 5.2-years-old @entity1 presented with @entity410 , @entity4790 , and severe @entity245 . Brain imaging showed progressive @entity194 . EEG monitoring revealed multifocal and diffuse discharges, along with generalized-onset @entity410 . Genetic testing found a de novo pathogenic variant in the @entity43689 gene ( @entity69160 ; @entity67692 ). A review of the literature showed two other @entity1 with similar phenotype and the same genetic variant. In contrast, other @entity1 with @entity16 had private mutations in the @entity43689 gene. The neurological phenotypes associated with @entity43689 mutations appear to lie on a spectrum, and it is possible that the @entity69160 ( @entity67692 ) variant characterizes a phenotype with both severe @entity302 and @entity4790 . [Published with video sequence on www.epilepticdisorders.com].

@entity43689 -associated XXXX and movement disorders: @entity69160 variant represents a probable mutation hotspot with a distinct phenotype.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient', 'boy'] @entity410 :: ('MESH:D012640', 'Disease') :: ['seizures'] @entity67692 :: ('p|SUB|G|203|R', 'ProteinMutation') :: ['p.Gly203Arg'] @entity4790 :: ('MESH:D002819', 'Disease') :: ['chorea'] @entity16 :: ('MESH:D009422', 'Disease') :: ['neurological involvement'] @entity245 :: ('MESH:D002658', 'Disease') :: ['global developmental delay'] @entity43689 :: ('2775', 'Gene') :: ['GNAO1'] @entity194 :: ('MESH:D001284', 'Disease') :: ['diffuse cerebral atrophy'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epilepsy'] @entity69160 :: ('c|SUB|G|607|A', 'DNAMutation') :: ['c.607G>A']
@entity302 :: (MESH:D004827,Disease) :: ['epileptic encephalopathy']
