UNASSIGNED: Mutations in @entity22992 are increasingly recognized as a cause of @entity1625 ( @entity1625 ) and @entity159 ( @entity159 ). Our aim was to describe the @entity302 in seven @entity1 with @entity22992 mutations. We retrospectively reviewed the medical records of seven @entity1 with @entity22992 mutations and @entity302 . Mutation analysis was performed by direct sequencing of the coding exons of the @entity22992 gene. Disease onset was at a median age of 18  years (range 12-26). @entity302 was the presenting problem in six @entity1 . All had focal @entity410 , with motor (n  =  6) and visual (n  =  6) phenomena. Six @entity1 had secondarily generalized @entity410 and two @entity1 had @entity410 . Six @entity1 had one or more episodes of refractory @entity159 , including focal (n  =  5), subtle (n  =  4), @entity2045 (n  =  2) and @entity410 (n  =  3) @entity159 . During or after @entity159 , brain MRI showed lesions affecting the occipital lobe in all @entity1 , probably due to continuous @entity302 activity. Five of the six @entity1 with @entity159 died during treatment of @entity159 , one due to @entity1092 -induced hepatotoxicity. Associated clinical symptoms were @entity2055 (n  =  6), @entity305 (n  =  6), progressive external @entity4610 (PEO) (n  =  3) and @entity2704 (n  =  3). @entity302 may be the first and dominant neurological problem caused by @entity22992 mutations. The @entity302 may be severe and the condition of the @entity1 may end in fatal @entity159 . Refractory @entity1625 and @entity159 in a @entity1 with @entity305 , @entity2055 , PEO or @entity2704 warrant screening for @entity22992 mutations. In this clinical setting, @entity1092 should not be given in view of the risk of fatal hepatotoxicity.

The spectrum of XXXX caused by @entity22992 mutations.

@entity1 :: ('9606', 'Species') :: ['patients', 'patient'] @entity410 :: ('MESH:D012640', 'Disease') :: ['convulsive', 'seizures', 'myoclonic seizures'] @entity1625 :: ('MESH:D004828', 'Disease') :: ['refractory occipital lobe epilepsy', 'OLE'] @entity22992 :: ('5428', 'Gene') :: ['POLG'] @entity2045 :: ('MESH:D009207', 'Disease') :: ['myoclonic'] @entity1092 :: ('MESH:D014635', 'Chemical') :: ['valproate'] @entity305 :: ('MESH:D011115', 'Disease') :: ['polyneuropathy'] @entity4610 :: ('MESH:D009886', 'Disease') :: ['ophthalmoplegia'] @entity2704 :: ('MESH:D008881', 'Disease') :: ['migraine'] @entity302 :: ('MESH:D004827', 'Disease') :: ['epilepsy syndrome', 'epileptic', 'epilepsy', 'Epilepsy'] @entity159 :: ('MESH:D013226', 'Disease') :: ['status epilepticus', 'SE'] @entity2055 :: ('MESH:D001259', 'Disease') :: ['ataxia']
@entity302 :: (MESH:D004827,Disease) :: ['epilepsy']
