Epilepsy, Familial Focal, With Variable Foci 2; Ffevf2

Description

Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant form of epilepsy characterized by focal seizures arising from different cortical regions, including the temporal, frontal, parietal, and occipital lobes. Seizure types commonly include temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and nocturnal frontal lobe epilepsy (NFLE). A subset of patients have structural brain abnormalities, particularly focal cortical dysplasia (FCD). There is significant incomplete penetrance, with many unaffected mutation carriers within a family (summary by Ricos et al., 2016).For a discussion of genetic heterogeneity of FFEVF, see FFEVF1 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Epilepsy, Familial Focal, With Variable Foci 2; Ffevf2

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Polymicrogyria
  • Focal-onset seizure
  • Cortical dysplasia
  • Perisylvian polymicrogyria
  • Focal cortical dysplasia

Incidence and onset information

Not enough data available about incidence and published cases.
— The onset for some of the known clinical features related to this disease may vary, including childhood 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Epilepsy, Familial Focal, With Variable Foci 2; Ffevf2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Early Infantile Epileptic Encephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL3, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SPTAN1, CDKL5, STXBP1, TSC1, TSC2, WWOX, CNTNAP2, PCDH19, ARHGEF9, ARFGEF2 , (...)

View the complete list with 62 more genes
Specificity
2 %
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 %
Epilepsy: Focal Epilepsy and Focal Cortical Dysplasia via NPRL2 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

NPRL2
Specificity
100 %
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 %
NPRL2.

By Fulgent Genetics Fulgent Genetics (United States).

NPRL2
Specificity
100 %
Genes
100 %

We have -3 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2; DRS2 TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL; HFTC PSEUDOHYPOPARATHYROIDISM, TYPE IB; PHP1B MCCUNE-ALBRIGHT SYNDROME BARTTER SYNDROME, TYPE 3; BARTS3 HASHIMOTO-PRITZKER SYNDROME LEUKODYSTROPHY, HYPOMYELINATING, 12; HLD12

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more