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A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy
Author(s) -
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,
Tönnies Holger
Publication year - 2010
Publication title -
epilepsia
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.687
H-Index - 191
eISSN - 1528-1167
pISSN - 0013-9580
DOI - 10.1111/j.1528-1167.2010.02712.x
Subject(s) - epilepsy , gene duplication , psychology , pediatrics , medicine , psychiatry , genetics , biology , gene
Summary 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 β‐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.