Generalized Epilepsy With Febrile Seizures Plus, Type 2; Gefsp2

Description

Mutations in the SCN1A gene cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures to generalized epilepsy with febrile seizures plus, type 2, which represents a more severe phenotype. Patients with isolated febrile seizures usually have onset between ages 6 months and 4 years and show spontaneous remission by age 6 years (summary by Mantegazza et al., 2005), whereas patients with GEFS+ continue to have various types of febrile and afebrile seizures later in life (summary by Singh et al., 2009). Dravet syndrome (OMIM ), or severe myoclonic epilepsy of infancy, is the most severe phenotype associated with SCN1A mutations.Mutations in certain genes can cause a phenotypic spectrum of overlap between the isolated febrile phenotype and the GEFS+ phenotype. For a general phenotypic description and a discussion of genetic heterogeneity of GEFS+, see {604233}. For a phenotypic description and a discussion of genetic heterogeneity of familial febrile seizures, see {121210}.

Clinical Features

Top most frequent phenotypes and symptoms related to Generalized Epilepsy With Febrile Seizures Plus, Type 2; Gefsp2

  • Seizures
  • Fever
  • Generalized tonic-clonic seizures
  • Generalized myoclonic seizures
  • Focal-onset seizure
  • Febrile seizures
  • Generalized-onset seizure
  • Absence seizures
  • Atonic seizures
  • Generalized tonic seizures

And another 3 symptoms. If you need more information about this disease we can help you.

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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.

Alternative names

Generalized Epilepsy With Febrile Seizures Plus, Type 2; Gefsp2 Is also known as gefs+2, gefs+, type 2.

Researches and researchers

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Generalized Epilepsy With Febrile Seizures Plus, Type 2; Gefsp2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SCN1A Deletion Test.

By Athena Diagnostics Inc (United States).

SCN1A
Specificity
100 %
Genes
100 %
SCN1A Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A
Specificity
100 %
Genes
100 %
Hemiplegic Migraine Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, CACNA1A, ATP1A2
Specificity
34 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Generalized, Absence, Focal,Febrile and Myoclonic Epilepsies.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SUCLA2, SYNJ1, SLC4A10, CACNA1A, CACNA1H, CACNB4, PCDH19, SLC25A19, CASR , (...)

View the complete list with 64 more genes
Specificity
2 %
Genes
100 %
SCN1A Sequencing Test (FHM).

By Athena Diagnostics Inc (United States).

SCN1A
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 - Epilepsy with Migraine.

By Athena Diagnostics Inc (United States).

SCN1A, SLC2A1, CACNA1A, PRRT2, NOTCH3, ATP1A2, POLG
Specificity
15 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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