Rebecca Foulger edited their review of gene: ETHE1: Added comment: 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. ; Changed rating: AMBER
Rebecca Foulger Added comment: 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).
Rebecca Foulger commented on gene: ETHE1: 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.