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.

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy / Muhle H; Steinich I; von Spiczak S; Franke A; Weber Y; Lerche H; Wittig M; Heidemann S; Suls A; de Jonghe P; Marini C; Guerrini R; Scheffer IE; Berkovic SF; Stephani U; Siebert R; Sander T; Helbig I; Tönnies H.. - In: EPILEPSIA. - ISSN 0013-9580. - STAMPA. - 51:(2010), pp. 2453-2456. [10.1111/j.1528-1167.2010.02712.x]

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

GUERRINI, RENZO;
2010

Abstract

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.
2010
51
2453
2456
Muhle H; Steinich I; von Spiczak S; Franke A; Weber Y; Lerche H; Wittig M; Heidemann S; Suls A; de Jonghe P; Marini C; Guerrini R; Scheffer IE; Berkov...espandi
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/523456
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