Epileptic Encephalopathy, Early Infantile, 30; Eiee30

Clinical Features

Top most frequent phenotypes and symptoms related to Epileptic Encephalopathy, Early Infantile, 30; Eiee30

  • Seizures
  • Global developmental delay
  • Cognitive impairment
  • Feeding difficulties
  • Respiratory insufficiency
  • Respiratory distress
  • Absent speech
  • Encephalopathy
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures

And another 7 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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, 30; Eiee30 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
CustomNext: Neuro.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
EpiFirst-Infantile Spasms.

By Ambry Genetics (United States).

SCN2A, SCN8A, SIK1, SPTAN1, CDKL5, STXBP1, TSC1, TSC2, ARX, KCNT1, SLC25A22, DNM1, EEF1A2, FOXG1, GRIN1, GRIN2A, KCNQ2
Specificity
6 %
Genes
100 %
EpilepsyNext.

By Ambry Genetics (United States).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
EpiRapid reflex EpilepsyNext.

By Ambry Genetics (United States).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMC1A, SNAP25, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TCF4, TSC1, TSC2 , (...)

View the complete list with 80 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %

You can get up to 8 more panels with our dedicated tool

Learn 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 TREACHER COLLINS SYNDROME 2; TCS2 MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17 FAMILIAL MEDITERRANEAN FEVER; FMF ACID-LABILE SUBUNIT DEFICIENCY; ACLSD MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2 MUSCLE-EYE-BRAIN DISEASE LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY; LSMFLAD