Febrile Seizures, Familial, 11; Feb11

Description

Familial febrile seizures-11 is an autosomal recessive seizure disorder characterized by early childhood onset of simple or complex seizures associated with fever. These seizures usually remit later in childhood with no neurologic sequelae (summary by Salzmann et al., 2012).For a general description and a discussion of genetic heterogeneity of familial febrile seizures, see FEB1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Febrile Seizures, Familial, 11; Feb11

  • Seizures
  • Focal seizures
  • Febrile seizures
  • Generalized tonic-clonic seizures
  • Focal seizures with impairment of consciousness or awareness
  • Cerebral hemorrhage
  • Simple febrile seizures
  • Complex febrile seizures

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Febrile Seizures, Familial, 11; Feb11 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc in United States.

ALPL, ADSL, SLC25A19, LIAS, ABAT, GAMT, GATM, SUCLA2, ALG9, GLDC, AMT, ALDH7A1, NDUFA1, L2HGDH, CYP27A1, SLC6A8, CHRNA7, PCDH19, SLC2A1, PHGDH , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc in United States.

UBE3A, ALPL, ADSL, PAX6, CPT2, ATP6V0A2, HSD17B10, HPRT1, ADGRV1, SHH, POLG, SLC25A19, PANK2, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, SUCLA2 , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy/Seizure.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States.

MTHFR, UBE3A, BTD, ADSL, MMACHC, ADGRV1, POLG, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 78 more genes
Specificity
2 %
Genes
100 %
Epilepsy familial temporal lobe 5 (sequence analysis of CPA6 gene).

By CGC Genetics in Portugal.

CPA6
Specificity
100 %
Genes
100 %
Comprehensive Epilepsy and Seizure Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, ADSL, TUBB3, POLG, MECP2, GAMT, STXBP1, TUBA1A, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, ARX, CDKL5, FOXG1, MEF2C , (...)

View the complete list with 133 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

UBE3A, PTEN, ADSL, POLG, MECP2, LIAS, DHDDS, ABAT, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, GCSH, GLDC, AMT, SLC9A6, ALDH5A1, ALDH7A1 , (...)

View the complete list with 202 more genes
Specificity
1 %
Genes
100 %
Epilepsy, familial temporal lobe type 5.

By Centogene AG - the Rare Disease Company in Germany.

CPA6
Specificity
100 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
CPA6.

By Amplexa Genetics Amplexa Genetics A/S in Denmark.

CPA6
Specificity
100 %
Genes
100 %
Idiopathic Generalized and Focal Epilepsy Panel.

By CeGaT GmbH in Germany.

AMACR, ME2, ALDH7A1, SLC2A1, SCN1A, CACNA1A, CASR, KCNA1, CACNB4, SLC1A3, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, SCN9A, SCN1B, SCN2A, STX1B , (...)

View the complete list with 20 more genes
Specificity
3 %
Genes
100 %
Epilepsy.

By Asper Biogene Asper Biogene LLC in Estonia.

UBE3A, MCCC1, ADSL, TUBB3, POLG, MECP2, GAMT, GATM, STXBP1, SLC25A22, ALG3, SLC9A6, ALDH7A1, MOCS2, MOCS1, WWOX, SLC6A8, ARX, CDKL5, FOXG1 , (...)

View the complete list with 104 more genes
Specificity
1 %
Genes
100 %
EPILEPSY HEREDITARY PANEL.

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

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, MT-ATP6, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A , (...)

View the complete list with 17 more genes
Specificity
3 %
Genes
100 %
Epilepsy and Seizure Disorders: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH5A1, ALDH7A1, NDUFA1, CYP27A1 , (...)

View the complete list with 90 more genes
Specificity
1 %
Genes
100 %
Neurology: Sequencing Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

UBE3A, ADSL, TUBB3, CC2D2A, TMEM67, NPHP1, ADGRV1, CEP290, SHH, POLG, SLC25A19, MECP2, LIAS, GAMT, GATM, STXBP1, TUBA1A, RARS2, CTSD, SLC25A22 , (...)

View the complete list with 144 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Seizure Disorders: Deletion/Duplication Panel.

By EGL Genetic Diagnostics Eurofins Clinical Diagnostics in United States.

MTHFR, UBE3A, ADSL, ADGRV1, SHH, POLG, SLC25A19, MECP2, LIAS, ABAT, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, NDUFA1, TPP1, CLN3 , (...)

View the complete list with 87 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
CPA6.

By Fulgent Genetics Fulgent Genetics in United States.

CPA6
Specificity
100 %
Genes
100 %
Idiopathic Generalized Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, ADSL, HSD17B10, ME2, MECP2, STXBP1, SLC9A6, ALDH7A1, ARX, CDKL5, FOXG1, MEF2C, PCDH19, PLP1, SLC2A1, SYNGAP1, SMC1A, GPC3, CSTB, SCN1A , (...)

View the complete list with 69 more genes
Specificity
2 %
Genes
100 %
Early-Onset Epileptic Encephalopathy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

UBE3A, AUH, ADSL, ADGRV1, POLG, MECP2, LIAS, SLC25A12, GAMT, GATM, STXBP1, CTSD, SLC25A22, SLC9A6, ALDH7A1, TPP1, CLN3, WWOX, FARS2, SLC6A8 , (...)

View the complete list with 113 more genes
Specificity
1 %
Genes
100 %
Comprehensive Epilepsy NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

MTHFR, UBE3A, PC, ARG1, BTD, ATPAF2, AUH, BCS1L, TWNK, C12orf65, ADSL, PAX6, AMACR, CPT2, PSAP, GNPTAB, GLB1, CC2D2A, PRODH, ATP6V0A2 , (...)

View the complete list with 427 more genes
Specificity
1 %
Genes
100 %
Familial Epilepsy and Related Disorders , Panel Massive Sequencing (NGS) 34 Genes.

By Reference Laboratory Genetics in Spain.

STXBP1, ALDH7A1, ARX, CDKL5, PCDH19, SLC2A1, SCN1A, CACNA1A, KCNA1, CACNB4, ATP1A2, CACNA1H, CHRNB2, CPA6, EFHC1, LGI1, GABRB3, NHLRC1, SCN9A, SCN1B , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %

Alternate names

Febrile Seizures, Familial, 11; Feb11 Is also known as convulsions, familial febrile, 11;.


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