Epilepsia · 2010 · 28 citations · 11 references
Life SciencesGeneticsMolecular GeneticsEpilepsyHuman GeneticsMedical GeneticsEpilepsy GeneticsEpilepsy SyndromesGenetic DisordersGenetic EpilepsiesRare Disease GeneticsRare Variant Association StudiesEpilepsy Syndromes Of ChildhoodGaba Receptor Gene DisordersGaba Receptor GenesGenetic Causes Of EpilepsyGenetic Epilepsies In ChildrenMissense MutationsPharmacogenetics In EpilepsyRare Variant Discovery
Mutations in the GABRB3 have been recently associated with childhood absence epilepsy (CAE) in families from Honduras and Mexico. In this study, we aimed to determine the frequency of mutation in this gene in our cohort of families with CAE and other related idiopathic generalized epilepsy (IGE) syndromes. We screened the open reading frame of GABRB3 in 183 French-Canadian individuals with IGE, including 88 with CAE. A total of nine single nucleotide polymorphisms (SNPs) have been identified,five of which are novel. The previously described P11S missense mutation was found in three affected and one unaffected individuals from a French-Canadian family. However, the P11S variant was also found in one of our 190 control individuals of French-Canadian origin, suggesting that this variant is rather a rare polymorphism in this population. Further screening of other IGE cohorts from various ethnic origins would help to confirm the association between this rare functional variant and epilepsy.
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Mutant GABAA receptor γ2-subunit in childhood absence epilepsy and febrile seizures
Robyn H. Wallace, Carla Marini, Steven Petrou et al. · Nature Genetics · 2001 · 782 citations
Medicine, Neurology, Neuroscience +16
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Patrick Cossette, Lidong Liu, Katéri Brisebois et al. · Nature Genetics · 2002 · 653 citations