Description
Familial Focal Epilepsies eligibility statement:

Familial Focal Epilepsies inclusion criteria (29505)
- Patients with focal epilepsy not thought to be acquired in aetiology
- At least two first degree relatives or affected family members across three generations who have focal epilepsy that is not thought to be acquired in aetiology
- All forms of focal epilepsy are permissible

Familial Focal Epilepsies exclusion criteria (29505)
- Suspected acquired cause of epilepsy
- EEG demonstrates definite generalised epileptiform discharges

Prior genetic testing guidance (29505)
- Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. 
- Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing.  

PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out.

Closing statement (29505)
These requirements will be kept under continual review during the main programme and may be subject to change.

4 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Richard Scott (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Arianna Tucci (Genomics England Curator)

    Group: Other
    Workplace: Other

10 Entities

9 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
CHRNA4
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 600513
Tags
Green Green List (high evidence)
CHRNB2
2 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 605375
Tags
Green Green List (high evidence)
CNTNAP2
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Cortical Dysplasia-Focal Epilepsy Syndrome
Tags
Green Green List (high evidence)
DEPDC5
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Epilepsy, familial focal, with variable foci
  • 604364
Tags
Green Green List (high evidence)
KCNT1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 615005
Tags
Green Green List (high evidence)
LGI1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Epilepsy, familial temporal lobe, 1 600512
Tags
Green Green List (high evidence)
SCN1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • 607208
Tags
Red Red List (low evidence)
CHRNA2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • 610353
Tags
Red Red List (low evidence)
SCN9A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • Epilepsy, generalized, with febrile seizures plus, type 7
  • Febrile seizures, familial, 3B
Tags
  • watchlist
Red Red List (low evidence)
TSC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Focal Cortical Dysplasia of Taylor
Tags

Major version comments

Downloads

Download lists

Download Version