A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

作者：Muhle Hiltrud^*; Steinich Ines; von Spiczak Sarah; Franke Andre; Weber Yvonne; Lerche Holger; Wittig Michael; Heidemann Simone; Suls Arvid; de Jonghe Peter; Marini Carla; Guerrini Renzo; Scheffer Ingrid E; Berkovic Samuel F; Stephani Ulrich; Siebert Reiner; Sander Thomas; Helbig Ingo; Toennies Holger

来源：Epilepsia, 2010, 51(12): 2453-2456.

DOI：10.1111/j.1528-1167.2010.02712.x

• Absence epilepsy
• Early onset absence seizures
• Epilepsy genetics
• 1q21
• 3 duplication
• CHRNB2
• ADAR

P>Early onset absence epilepsy (EOAE) starting before the age of 4 years constitutes a rare subgroup of the idiopathic generalized epilepsies (IGEs). A strong genetic component in IGE has been suggested by twin and family studies. We describe a boy with absence seizures starting at the age of 9 months whose parents both had childhood absence epilepsy. A 192-kb duplication in 1q21.3 was identified in the proband and his father, encompassing the gene CHRNB2 coding for the beta-2 subunit of the nicotinic acetylcholine receptor and the gene ADAR coding for adenosine deaminase, an enzyme responsible for RNA editing. Both are candidate genes for seizure disorders. The duplication was not identified in 191 independent IGE patients (93 EOAE; 98 classical IGE) or in 1,157 population controls.

• 出版日期2010-12