Epileptic Encephalopathy, Early Infantile, 4; Eiee4
Genes related to Epileptic Encephalopathy, Early Infantile, 4; Eiee4
- STXBP1
Clinical Features
Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 4; Eiee4
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Fever
- Tremor
- Hypoplasia of the corpus callosum
- Intellectual disability, severe
- Cerebral atrophy
- Absent speech
And another 22 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, 4; Eiee4 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
MitoMet®Plus aCGH Analysis.
By Baylor Miraca Genetics Laboratories (United States).
RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)
View the complete list with 612 more genes
Specificity
1 %
Genes
100 % |
STXBP1 Sequence Analysis.
By Baylor Miraca Genetics Laboratories (United States).
STXBP1
Specificity
100 %
Genes
100 % |
STXBP1 Sequence Analysis (Familial Mutation/Variant Analysis).
By Baylor Miraca Genetics Laboratories (United States).
STXBP1
Specificity
100 %
Genes
100 % |
STXBP1 Sequence Analysis (Prenatal Diagnosis).
By Baylor Miraca Genetics Laboratories (United States).
STXBP1
Specificity
100 %
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 % |
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.
By Athena Diagnostics Inc (United States).
SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)
View the complete list with 47 more genes
Specificity
2 %
Genes
100 % |
Epilepsy Advanced Sequencing and CNV Evaluation - Infantile Spasms.
By Athena Diagnostics Inc (United States).
SCN2A, ST3GAL3, SLC35A2, SPTAN1, CDKL5, STXBP1, CACNA2D1, ARX, SLC25A22, ADSL, TBL1XR1, FOXG1, GABRB3, GRIN2A, MEF2C, NR2F1
Specificity
7 %
Genes
100 % |
Syndromic Autism Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
Specificity
2 %
Genes
100 % |
You can get up to 88 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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