Early onset or syndromic epilepsy

Gene: SCN1A

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

AD Dravet syndrome, >80% of cases. Common cause of epilepsy (also assoc with AD generalised epilepsy with febrile seizures, AD febrile seizures and AD familial hemiplegic migraine).

Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.

Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Epilepsy, generalized, with febrile seizures plus,604403; Epileptic encephalopathy, early infantile, (Dravet syndrome),607208; Febrile seizures, familial,604403; Migraine, familial hemiplegic,609634

Publications

• 12821740

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

• Claes et al (2001) Am J Hum Genet 68: 1327_1332
• Escayg et al (2000) Nature Genet 24: 343-345

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

• Claes et al (2001) Am J Hum Genet 68: 1327_1332
• Escayg et al (2000) Nature Genet 24: 343-345

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

• Claes et al (2001) Am J Hum Genet 68: 1327_1332
• Escayg et al (2000) Nature Genet 24: 343-345

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dravet syndrome; Epilepsy, generalized, with febrile seizures plus, type 2; Febrile seizures, familial, 3A

Publications

• Claes et al (2001) Am J Hum Genet 68: 1327 1332
• Escayg et al (2000) Nature Genet 24: 343-345

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Variable phenotype, which can include focal epilepsy

Created: 1 Feb 2016, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
607208

Publications

• 26188943

Variants in this GENE are reported as part of current diagnostic practice

Comment when marking as ready: Confirmed DD gene and all 4 reviewers agree this should be green. Mode of inheritance and loss-of-function mechanism confirmed.

Created: 21 Jan 2016, 11:50 a.m.

Comment on mode of inheritance: Confirmed, and not on imprinted gene list.

Created: 21 Jan 2016, 11:49 a.m.