Epileptic Encephalopathy, Early Infantile, 41; Eiee41
Table of contents:
Genes related to Epileptic Encephalopathy, Early Infantile, 41; Eiee41
- SLC1A2
Clinical Features
Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 41; Eiee41
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
- Spasticity
- Flexion contracture
- Feeding difficulties
- Visual impairment
And another 22 symptoms. If you need more information about this disease we can help you.
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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, 41; Eiee41 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)
View the complete list with 133 more genes
Specificity
1 %
Genes
100 % |
SLC1A2.
By Fulgent Genetics Fulgent Genetics (United States).
SLC1A2
Specificity
100 %
Genes
100 % |
Early Infantile Epileptic Encephalopathy , Panel Massive Sequencing (NGS) 30 Genes.
By Reference Laboratory Genetics (Spain).
SCN1A, SCN2A, SCN8A, SCN9A, ST3GAL3, SLC1A2, SLC25A12, SPTAN1, CDKL5, STXBP1, CACNA1A, PCDH19, ARHGEF9, PLCB1, ARX, AARS, TBC1D24, DNM1, ALG13, GABRA1 , (...)
View the complete list with 8 more genes
Specificity
4 %
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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