Epileptic Encephalopathy, Early Infantile, 49; Eiee49
Early infantile epileptic encephalopathy-49 is a severe autosomal recessive neurologic disorder characterized by onset of seizures in the neonatal period, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features. Some patients may have brain calcifications on imaging (summary by Han et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).
Genes related to Epileptic Encephalopathy, Early Infantile, 49; Eiee49
Clinical FeaturesTop most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 49; Eiee49
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Optic atrophy
- Frontal bossing
And another 26 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 researchersCurrently, 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, 49; Eiee49 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
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Symptoms Checker
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HYPOBETALIPOPROTEINEMIA, FAMILIAL, 1; FHBL1 CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED SICKLE CELL ANEMIA 3MC SYNDROME 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D