title: Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.
abstract: OBJECTIVE
  To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS).
  
  
  BACKGROUND
  BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (AChR) have been demonstrated in autosomal dominant nocturnal frontal lobe epilepsy, which, like BECTS, is an idiopathic partial epilepsy.
  
  
  METHODS
  A DNA linkage study was conducted screening all chromosomal regions known to harbor neuronal nicotinic AChR subunit genes. Twenty-two nuclear families with BECTS were analyzed.
  
  
  RESULTS
  In an "affected-only" study, best p values and lod scores were reached between D15S165 and D15S1010 on chromosome 15q14. In multipoint nonparametric linkage analysis a nominal p value of 0.000494 was calculated by GENEHUNTER. Best parametric results were obtained under an autosomal recessive model with heterogeneity (multipoint lod score 3.56 with 70% of families linked to the locus). These markers are localized in direct vicinity to the alpha 7 subunit gene of the AChR.
  
  
  CONCLUSIONS
  We found evidence for linkage of BECTS to a region on chromosome 15q14. Either the alpha 7 AChR subunit gene or a closely linked gene are implicated in pedigrees with BECTS. The disorder is genetically heterogeneous. Surprisingly, the same chromosomal area has been reported to be linked to the phenotype in families with an auditory neurophysiologic deficit as well as in families with juvenile myoclonic epilepsy, another idiopathic but generalized epilepsy syndrome.
authors.affiliation: Department of Neuropediatrics, University of Kiel, Germany.
authors.forename: B A
authors.initials: BA
authors.lastname: Neubauer
authors.forename: B
authors.initials: B
authors.lastname: Fiedler
authors.forename: B
authors.initials: B
authors.lastname: Himmelein
authors.forename: F
authors.initials: F
authors.lastname: Kämpfer
authors.forename: U
authors.initials: U
authors.lastname: Lässker
authors.forename: G
authors.initials: G
authors.lastname: Schwabe
authors.forename: I
authors.initials: I
authors.lastname: Spanier
authors.forename: D
authors.initials: D
authors.lastname: Tams
authors.forename: C
authors.initials: C
authors.lastname: Bretscher
authors.forename: K
authors.initials: K
authors.lastname: Moldenhauer
authors.forename: G
authors.initials: G
authors.lastname: Kurlemann
authors.forename: S
authors.initials: S
authors.lastname: Weise
authors.forename: K
authors.initials: K
authors.lastname: Tedroff
authors.forename: O
authors.initials: O
authors.lastname: Eeg-Olofsson
authors.forename: C
authors.initials: C
authors.lastname: Wadelius
authors.forename: U
authors.initials: U
authors.lastname: Stephani
mesh_terms: D000293:Adolescent; D001923:Brain Chemistry / Q000502:physiology; D002648:Child; D002675:Child, Preschool; D002884:Chromosomes, Human, Pair 15; D004569:Electroencephalography; D019305:Epilepsy, Rolandic / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000502:physiology
chemical_list: D011978:Receptors, Nicotinic