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2 patient data entries in database for clusters W748S and 1 in age group "juvenile". Entry
# | | Mutations | | allele 1 | allele 2 |
| Clinical representation | Symptoms | Age group | Age of onset | Age of patient | Age of death | Reference | | | 339 | T914P1
| W748S5
| Presented with generalized epilepsy and mild long-standing learning difficulties requiring special education, developed liver failure after taking valproate, migraines, right-sided epilepsia partialis continua, myoclonic arm jerks, a pancerebellar syndrome, and progressive cognitive impairment. mild external ophthalmoplegia, saccadic pursuit, writhing tongue movements, dysarthria, bilateral dysdiadochokinesis and dysmetria, mild sensory axonal peripheral neuropathy, ptosis | | - | external ophthalmoplegia | |
| | 15 | n/a | n/a | Hinnell et al, 2012; [view data] | | 655 | V1106A1
| W748S5
| SANDO. In spite of normal developmental milestones, the patient started to have walking difficulties at the age of 13 years. Her condition deteriorated, and she developed ataxic gait and dysarthria. Two years later, she developed action-exacerbated myoclonus. Nerve conduction studies showed sensorymotor polyneuropathy of lower limb nerves. | | - | movement disorder (ataxia) | |
| | 13 | 15 | n/a | Kaliszewska et al, 2015; [view data] |
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. Number of displayed patient cases: 2
Avg age of onset in displayed cases: 14.0
Std dev in onset in displayed cases: 1.0
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