Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Eig11

Description

Both juvenile myoclonic epilepsy and juvenile absence epilepsy are subtypes of idiopathic generalized epilepsy (EIG).For a general phenotypic description and a discussion of genetic heterogeneity of these disorders, see EIG (OMIM ), EJM (OMIM ), and EJA (OMIM ).

Clinical Features

Phenotypes and symptoms related to Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Eig11

  • Seizures
  • Generalized myoclonic seizures
  • Absence seizures
  • Generalized tonic-clonic seizures on awakening

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.


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Epilepsy, Idiopathic Generalized, Susceptibility To, 11; Eig11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
Epilepsy, idiopathic generalized type 11 (sequence analysis of CLCN2 gene).

By CGC Genetics (Portugal).

CLCN2
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RORB, SCN10A, SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC17A5, SLC1A2, SLC2A1, SLC35A2, SLC6A1, SLC9A6, SMARCA2, SMC1A, SNAP25, SON, SPTAN1 , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Neurogenetic Disorders - panels.

By MGZ Medical Genetics Center (Germany).

BCS1L, RTN2, RYR1, SACS, SCN1A, SCN1B, SCN2A, SCN8A, SCO1, SCO2, AIMP1, SDHA, SDHB, SDHC, SDHD, SGCE, SLC16A2, SLC17A5, SLC19A2, SLC1A3 , (...)

View the complete list with 572 more genes
Specificity
1 %
Genes
100 %
Febrile seizures / genetic epilepsy with febrile seizures plus (GEFS+) panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SCN1A, SCN1B, SCN2A, SCN9A, PCDH19, ADGRV1, CLCN2, TBC1D24, GABRD, GABRG2
Specificity
10 %
Genes
100 %
IGE/JME/CAE panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht (Netherlands).

SLC2A1, BRD2, CACNA1H, CACNB4, CASR, EFHC1, CLCN2, GABRA1, GABRB3, GABRD, ME2
Specificity
10 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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