Table 1. Demographic characteristics and clinical features of patients selected for WES (*).
| CASE ID | AGE OF ONSET | AGE AT TESTING | PRIMARY DISEASE CLASSIFICATION | CLINICAL PRESENTATION |
|---|---|---|---|---|
| 1 | 1 | 28 | - | Mental retardation, autism, epilepsy, dystonia |
| 2 | 5 | 9 | Epilepsy with Variable Foci | Epilepsy |
| 3 | 1 | 5 | Dravet Syndrome | Epilepsy, cognitive impairment |
| 4 | 9 | 17 | Hemiplegic Migraine | Episodic migraine, hemiplegia |
| 5 | 14 | 24 | Sporadic ataxia | Ataxia, myoclonus, cognitive impairment, cerebellar atrophy on MRI |
| 6 | 9 | 24 | Spastic Paraplegia Plus | Paraplegia, mental retardation, thinning of the corpus callosum on MRI, peripheral neuropathy |
| 7 | 4 | 23 | - | Generalized dystonia, chorea, cognitive impairment |
| 8 | 2 | 5 | Epileptic encephalopathy | Ataxia, absence epilepsy, neurodevelopmental delay |
| 9 | 8 | 50 | Myopathy | Very mild muscle weakness, hyperCKemia |
| 10 | 1 | 11 | Epileptic encephalopathy | Autism, hyperactivity, epilepsy |
| 11 | 6 | 11 | Ataxia + oculomotor apraxia | Ataxia, chorea, tremor, oculomotor apraxia |
| 12 | 16 | 23 | Leukodystrophy | leukodystrophy on MRIs + cognitive impairment Ataxia + pyramidal syndrome + abnormal eye movements |
| 13 | 55 | 70 | Sporadic ataxia | Ataxia |
| 14 | 1 | 4 | Leigh syndrome | Developmental delay, refractory epileptic encephalopathy, MRI signal abnormalities in the basal ganglia |
| 15 | 11 | 22 | Mitochondrial Disorder | Muscle fatigue |
| 16 | 1 | 5 | Chain respiratory disorder | Developmental delay, recurrent vomiting |
| 17 | 29 | 54 | Sporadic ataxia | Ataxia, pyramidal. |
| 18 | 5 | 15 | Ataxia | Ataxia, neuropathy, cerebellar atrophy |
| 19 | 2 | 12 | - | Developmental Disorder, speech impairment, polyneuropathy |
| 20 | 42 | 53 | Sporadic ataxia | Ataxia, cerebellar atrophy |
| 21 | 3 | 11 | Epileptic encephalopathy | Partial seizures, ataxia |
| 22 | Neonatal | 3 | Neonatal adrenoleukodystrophy | Hepatic dysfunction, hypotonia, white matter lesions on MRI |
| 23 | Neonatal | 3 | Encephalopathy | Mental delay, physical growth retardation, diarrhea, vomiting and increased lactic acid |
| 24 | Neonatal | 9 | Encephalopathy | Developmental delay, seizures, muscular weakness, dystonia. Fragmentary hypo myelination on MRI |
| 25 | 30 | 52 | Episodic ataxia | Episodic ataxia |
| 26 | 12 | 23 | Leukodystrophy | Ataxia, cognitive impairment, abnormal ocular movements. Symmetric hypo myelination on MRI |
| 27 | 27 | 33 | Rhabdomyolysis | Rhabdomyolysis, muscular fatigue |
| 28 | 6m | 5 | Mitochondrial | Developmental delay, epilepsy, dystonia, ragged red fibers on muscular biopsy |
| 29 | 3 | 32 | Myopathy | Proximal muscular weakness, muscular atrophy |
| 30 | Neonatal | 8 | Congenital disorder of Glycosylation | Microcephaly, seizures, muscular weakness |
| 31 | Neonatal | 10 | Polymicrogyria | Seizures, polymicrogyria on MRI |
| 32 | 2 | 8 | - | Speech impairment, developmental delay |
| 33 | 18m | 31 | Spastic quadriplegia | Quadriplegia, pyramidal dysfunction, fasciculation, muscular atrophy |
| 34 | 50 | 58 | Ataxia / Dementia | Progressive multidomain cognitive impairment, ataxia |
| 35 | 6m | 5 | Myopathy | Developmental delay, hypotonia, muscular weakness |
| 36 | 8 | 19 | Dystonia | Generalized dystonia |
| 37 | 2 | 16 | Optic Neuropathy | Progressive visual loss |
| 38 | 41 | 53 | Sensory Ataxia | Ataxia, distal hypoesthesia |
| 39 | 6 | 17 | NBIA | Dystonia, tremor |
| 40 | 46 | 56 | Sub-acute Dementia-Movement Disorders | Behavioral disorders, tremor, bradykinesia |
*36 patients were selected for WES based on the presence of a well-defined clinical syndrome; the first-tier analysis was done by investigating a panel of known disease genes known to be associated with the respective condition. The rest represents complex phenotypes with overlapping neurological features. The mean age at WES was 23, ranging from 3–70 years. (Age at testing column)
The mean time between the disease onset and WES was 11.5 years (range 3–42).