Epilepsy, Idiopathic Generalized, Susceptibility To, 14; Eig14

Clinical Features

Phenotypes and symptoms related to Epilepsy, Idiopathic Generalized, Susceptibility To, 14; Eig14

  • Seizures
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Febrile seizures
  • Absence seizures

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.

Epilepsy, Idiopathic Generalized, Susceptibility To, 14; Eig14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CHOP Epilepsy Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, TSC1, TSC2, UBE3A, WWOX, SLC12A5, CACNA1A , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
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
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 %
Bartter Syndrome panel.

By Centogene AG - the Rare Disease Company (Germany).

SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC12A7, SLC4A4, CA2, SLC12A5, WNK1, WNK4, CASR, BSND, SLC4A5, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Bartter syndrome.

By Centogene AG - the Rare Disease Company (Germany).

SLC12A5
Specificity
100 %
Genes
100 %
Single gene testing SLC12A5.

By CeGaT GmbH (Germany).

SLC12A5
Specificity
100 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC (Estonia).

SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, ST3GAL5, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SIK1, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYP, TCF4 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
BARTTER SYNDROME.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).

SCNN1A, SCNN1B, SCNN1G, SLC12A1, SLC12A2, SLC12A3, SLC12A7, SLC4A4, CA2, SLC12A5, WNK1, WNK4, CASR, BSND, SLC4A5, CLCNKA, CLCNKB, CLDN16, CLDN19, FXYD2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %

You can get up to 6 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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