Hyperekplexia - epilepsy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYPEREKPLEXIA AND EPILEPSY EIEE8 |
| Number of Symptoms | 12 |
| OrphanetNr: | 163985 |
| OMIM Id: |
300607
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| ICD-10: |
G25.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Congenital onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hyperekplexia
-Rare neurologic disease Rare genetic movement disorder -Rare genetic disease X-linked intellectual deficit - epilepsy -Rare genetic disease -Rare neurologic disease X-linked syndromic intellectual deficit -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0006887) | Intellectual disability, progressive | 68 / 7739 | ||||
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(HPO:0010864) | Intellectual disability, severe | 120 / 7739 | ||||
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(HPO:0001276) | Hypertonia | 317 / 7739 | ||||
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(HPO:0200134) | Epileptic encephalopathy | 42 / 7739 | ||||
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(HPO:0002267) | Exaggerated startle response | 42 / 7739 | ||||
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(HPO:0001250) | Seizures | 1245 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Seizures provoked by tactile stimulation or extreme emotion | 1 / 7739 | ||||
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(HPO:0003577) | Congenital onset | 133 / 7739 | ||||
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(OMIM) | Impaired psychomotor development | 1 / 7739 | ||||
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(OMIM) | Seizures are poorly controlled | 1 / 7739 | ||||
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(OMIM) | Seizures, tonic, hyperekplectic | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Harvey et al. (2004) reported a patient with clinical symptoms of both hyperekplexia and early infantile epileptic encephalopathy. The child was the first-born of a 32-year-old woman, delivered at 36 weeks' gestation. Cyanosis and muscular stiffness were noted ... |
| Molecular genetics OMIM |
In a girl with hyperekplexia and epilepsy, Harvey et al. (2004) detected a heterozygous gly55-to-ala mutation in the ARHGEF9 gene (300429.0001). In a Japanese boy with X-linked mental retardation and refractory epilepsy, Shimojima et al. (2011) ... |