Early onset or syndromic epilepsy

Gene: ETHE1

Green List (high evidence)

AR ethylmalonic encephalopathy (EE). Metabolic disorder. Some cases reported with epilepsy as a feature - Drousiotou et al, 2011 - 3 patients, 2 unrelated Greek-Cypriot families = all patients had seizures -2 diff variants detected 1 hom 1 compound het with another variant. Chicago gene panel info - Papetti et al, patient had an early pure epileptic onset - compound het variants.

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

Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy, 602473

Publications

• 20528888

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

Comment on list classification: Updated rating from Amber to Green: Green review by Zornitza. Confirmed DD-G2P gene for Ethylmalonic encephalopathy (EE) which can present with seizures. Sufficient cases of patients with EE and seizures for inclusion on panel (as summarised by PMID:26194623).

Created: 29 Nov 2018, 11:23 a.m.

PMID:26194623 (Papetti et al 2015) report on a baby with severe early onset EE associated with a novel ETHE1 gene variant and a an early pure epileptic onset. They also provide a summary of all previous EE cases. A large proportion report seizures- although the earlier cases don't report a ETHE1 gene defect, there are sufficient cases with both seizures and an ETHE1 variant reported.

Created: 29 Nov 2018, 11:22 a.m.

In 14 patients with ethylmalonic encephalopathy, Mineri et al. (2008, PMID:18593870) identified homozygosity for mutations in the ETHE1 gene. Three patients (patients 2, 3, and 4) had seizures reported amongst their symptoms.

Created: 29 Nov 2018, 11:22 a.m.

Green List (high evidence)

Seizures are a feature of this metabolic disorder.

Created: 13 Aug 2018, 11:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ethylmalonic encephalopathy, MIM#602473

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