Epileptic Encephalopathy, Early Infantile, 45; Eiee45
Genes related to Epileptic Encephalopathy, Early Infantile, 45; Eiee45
- GABRB1
Clinical Features
Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 45; Eiee45
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
- Visual impairment
- Hypoplasia of the corpus callosum
- Encephalopathy
- Developmental regression
- Epileptic encephalopathy
- Hypsarrhythmia
And another 1 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Epileptic Encephalopathy, Early Infantile, 45; Eiee45 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
Specificity
1 %
Genes
100 % |
Early infantile epileptic encephalopathy type 45.
By Centogene AG - the Rare Disease Company (Germany).
GABRB1
Specificity
100 %
Genes
100 % |
GABRB1.
By Fulgent Genetics Fulgent Genetics (United States).
GABRB1
Specificity
100 %
Genes
100 % |
You can get up to -5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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