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2 patient data entries collated from reference Nolte et al, 2013. Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Patient age | Age of onset | Age of death | | | 450 | R627W5
| W748S5
| Generalized tonic-clonic seizures which, within 3 days, evolved to epilepsia partialis continua (EPC) with continuous left-sided myoclonic jerks. Multifocal brain lesions and global brain atrophy. | | | 16 | 13 | 17 | | 451 | R627W5
| W748S5
| This previously healthy 17-year-old patient developed repeated complex partial seizures starting with visual sensations, as well as myoclonic jerks of her right arm that rapidly evolved to generalized tonic-clonic seizures. Repeated complex partial seizures and considerable mental impairment. | | | 17 | 17 | n/a |
1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.
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