Epilepsy, Familial Focal, With Variable Foci 3; Ffevf3

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

Top most frequent phenotypes and symptoms related to Epilepsy, Familial Focal, With Variable Foci 3; Ffevf3

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Delayed speech and language development
  • Autism
  • Autistic behavior
  • Focal-onset seizure
  • Febrile seizures
  • Hemiparesis
  • Hemiplegia

And another 6 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.

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, Familial Focal, With Variable Foci 3; Ffevf3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
Genes
100 %
Megalencephaly-polymicrogyria and dysplastic megalencephaly (NGS panel of 8 genes).

By CGC Genetics (Portugal).

NPRL3, CCND2, DEPDC5, EZH2, AKT3, MTOR, PIK3CA, PIK3R2
Specificity
13 %
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 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 %
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 %
NPRL3.

By Fulgent Genetics Fulgent Genetics (United States).

NPRL3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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