Early onset or syndromic epilepsy

Gene: GLRA1

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: Alison Callaway and John Taylor. Suggested gene rating: Amber.

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

Panel Version: 1.189

I don't know

GLRA1 appears to have a well-characterised association with hyperekplexia, which can be associated with seizures.

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

Panel Version: 1.188

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Hyperekplexia 1, 149400

Publications

• 20631190

Comment when marking as ready: At least 15 variants have been reported in cases with Hyperekplexia 1 149400, however, the seizures associated with this disorder to not have concomitant discharges on EEG analysis.

Created: 7 Nov 2018, 3:19 p.m.

I don't know

Publication describing a young girl with excessive startle reflex, weird laughing and developmental delay since early infancy. She also suffered from infantile spasms and generalized tonic-clonic seizures, and became seizure-free with antiepileptic drugs treatment. A novel heterozygous variant was identified in this gene in the daughter and mother (who also appeared with excessive startle reflex during early infancy). Multiple families reported in OMIM with association with hyperekplexia and variants in this gene.

Created: 4 Apr 2018, 3:03 p.m.

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

Phenotypes
Hyperekplexia; developmental delay; infantile spasms and generalized tonic-clonic seizures

Publications

• 29602144

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)