Genetic epilepsy syndromesGene: ADRA2B
This gene was part of an initial gene list 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: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD familial adult myoconic epilepsy 2 (FAME2) - generalised tonic clonic seizures are a feauture but they are infrequent. Guerrini et al, 2001 - Large Italian kindred -11 aff individuals all had infrequent generalidsed tonic-clonic seizures and 3 also had intractable complex partial seizures. Labuge et al 2002 - 4 generation European family - 8/13 generalised tonic-clonic seizures. De Falco et al, 2003 - 2 Italian families - most patients had infrequent seizures - no variant identified - Madia et al, 2008. De Fusco et al, 2014 - 4 generation Italian family - 5 aff - 4 had generalised tonic clonic seizures and 2 had drug-resistant focal seizures also looked at Guerrini et al 2000 family - all had het delins mutation - haplotype analysis suggested a founder effect, functional studies suggest GOF.
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
Epilepsy, myoclonic, familial adult, 2, 607876
gene: ADRA2B was added gene: ADRA2B was added to Genetic epilepsy syndromes. Sources: Wessex and West Midlands GLH,NHS GMS,Expert Review Amber Mode of inheritance for gene: ADRA2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ADRA2B were set to 11701600 Phenotypes for gene: ADRA2B were set to Epilepsy, myoclonic, familial adult, 2, 607876