Epileptic Encephalopathy, Early Infantile, 53; Eiee53
Description
Early infantile epileptic encephalopathy-53 is a severe neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies 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, 53; Eiee53
- SYNJ1
Clinical Features
Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 53; Eiee53
- Intellectual disability
- Seizures
- Generalized hypotonia
- Feeding difficulties
- Visual impairment
- Hypoplasia of the corpus callosum
- Encephalopathy
- Elevated serum creatine phosphokinase
- Tetraplegia
- Gliosis
And another 8 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, 53; Eiee53 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)
View the complete list with 64 more genes
Specificity
2 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)
View the complete list with 214 more genes
Specificity
1 %
Genes
100 % |
NGS Epilepsy/Seizure Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...)
View the complete list with 124 more genes
Specificity
1 %
Genes
100 % |
Dystonia Exome Panel.
By Genetic Services Laboratory University of Chicago (United States).
BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)
View the complete list with 150 more genes
Specificity
1 %
Genes
100 % |
SYNJ1.
By Institute for Human Genetics University Clinic Freiburg (Germany).
SYNJ1
Specificity
100 %
Genes
100 % |
Parkinson disease 20 (PARK20, sequence analysis of SYNJ1 gene).
By CGC Genetics (Portugal).
SYNJ1
Specificity
100 %
Genes
100 % |
Parkinson disease (NGS panel for 33 genes).
By CGC Genetics (Portugal).
SLC6A3, SNCA, SNCAIP, SNCB, SYNJ1, TAF1, TH, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, ATP6AP2, LRRK2, CSF1R, ADH1C, DCTN1 , (...)
View the complete list with 12 more genes
Specificity
4 %
Genes
100 % |
Parkinson Disease Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SLC6A3, SNCA, SPR, SYNJ1, TAF1, GIGYF2, UCHL1, VPS35, FBXO7, HTRA2, PINK1, DNAJC6, PARK7, RAB39B, LRRK2, CHCHD2, VPS13C, ATP13A2, EIF4G1, GBA , (...)
View the complete list with 4 more genes
Specificity
5 %
Genes
100 % |
You can get up to 21 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Search EngineIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEMALINE MYOPATHY 10; NEM10 IMMUNODEFICIENCY 51; IMD51