Early onset or syndromic epilepsy

Gene: MDH2

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)

AR EIEE51 - severe neurodevelopmental disorder characterised by onset of intractable seizures and hypotonia in first few days/weeks of life. Ait-El-Mkadem et al, 2017 - 3 unrelated boys two patients aged 5 and 12 years of age and third died at 1.5 years. ll patients had refractory epilepsy with generalised and myocloinc seizures. Compuound het variants identified in all 3. Functional studies from 2 patients showed a loss of MDH2 protein and almsot undetectable MDH2 enzymatic activity which could be restored by complementation with wt MDH2. 3 cases and functional work.

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
Epileptic encephalopathy, early infantile, 617339

Publications

• 27989324

Green List (high evidence)

MDH2 association with Epileptic encephalopathy, early infantile, 51 reported in 3 unrelated cases (PMID: 27989324).

As recommended by internal clinical team added as new Green gene in view of new evidence discovered as part of Intellectual Disability panel review

Created: 1 Mar 2018, 3:25 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Epileptic encephalopathy, early infantile, 51 617339

Publications

• 27989324