Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1

Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions in different family members. Many patients have an aura and show automatisms during the seizures, whereas others may have nocturnal seizures. There is often secondary generalization. Some patients show abnormal interictal EEG, and some patients have intellectual disability or autism spectrum disorders. Seizure onset usually occurs in the first or second decades, although later onset has been reported, and there is phenotypic variability within families. Penetrance of the disorder is incomplete (summary by Klein et al., 2012). Detailed electrophysiologic, brain imaging, and/or histologic studies have indicated that some patients have subtle or clear evidence of focal cortical dysplasia (FCD) (Baulac et al., 2015). Genetic Heterogeneity of Familial Focal Epilepsy With Variable FociSee also FFEVF2 (OMIM ), caused by mutation in the NPRL2 gene (OMIM ) on chromosome 3p21, FFEVF3 (OMIM ), caused by mutation in the NPRL3 gene (OMIM ) on chromosome 16p13, and FFEVF4 (OMIM ), caused by mutation in the SCN3A gene (OMIM ) on chromosome 2q24.

Clinical Features

Top most frequent phenotypes and symptoms related to Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Autism
  • Autistic behavior
  • Generalized tonic-clonic seizures
  • Focal-onset seizure
  • Psychosis
  • Heterotopia
  • Obsessive-compulsive behavior

And another 6 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1 Is also known as epilepsy, familial focal, with variable foci, ffevf, fpevf, epilepsy, partial, with variable foci.

Researches and researchers

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Epilepsy, Familial Focal, With Variable Foci 1; Ffevf1 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 (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 %
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 %
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 %
DEPDC5 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

DEPDC5
Specificity
100 %
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-Focal.

By Ambry Genetics (United States).

SCN1A, SCN1B, DEPDC5, KCNT1, CHRNA2, CHRNA4, CHRNB2, CRH, PRRT2, GRIN2A, LGI1
Specificity
10 %
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 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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