title: Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
abstract: Seizure disorders of the rolandic region comprise a spectrum of different epilepsy syndromes ranging from benign rolandic epilepsy to more severe seizure disorders including atypical benign partial epilepsy/pseudo-Lennox syndrome,electrical status epilepticus during sleep, and Landau-Kleffner syndrome. Centrotemporal spikes are the unifying electroencephalographic hallmark of these benign focal epilepsies, indicating a pathophysiologic relationship between the various epilepsies arising from the rolandic region. The etiology of these epilepsies is elusive, but a genetic component is assumed given the heritability of the characteristic electrographic trait. Herein we report on three patients with intellectual disability, various dysmorphic features, and epilepsies involving the rolandic region, carrying previously undescribed deletions in 16p13. The only gene located in the critical region shared by all three patients is GRIN2A coding for the alpha-2 subunit of the neuronal N-methyl-D-aspartate(NMDA) receptor.
authors.affiliation: Northern German Epilepsy Center for Children and Adolescents, Raisdorf, Germany.
authors.forename: Constanze
authors.initials: C
authors.lastname: Reutlinger
authors.forename: Ingo
authors.initials: I
authors.lastname: Helbig
authors.forename: Barbara
authors.initials: B
authors.lastname: Gawelczyk
authors.forename: Jose Ignacio Martin
authors.initials: JI
authors.lastname: Subero
authors.forename: Holger
authors.initials: H
authors.lastname: Tönnies
authors.forename: Hiltrud
authors.initials: H
authors.lastname: Muhle
authors.forename: Katrin
authors.initials: K
authors.lastname: Finsterwalder
authors.forename: Sascha
authors.initials: S
authors.lastname: Vermeer
authors.forename: Rolph
authors.initials: R
authors.lastname: Pfundt
authors.forename: Jürgen
authors.initials: J
authors.lastname: Sperner
authors.forename: Irina
authors.initials: I
authors.lastname: Stefanova
authors.forename: Gabriele
authors.initials: G
authors.lastname: Gillessen-Kaesbach
authors.forename: Sarah
authors.initials: S
authors.lastname: von Spiczak
authors.forename: Andreas
authors.initials: A
authors.lastname: van Baalen
authors.forename: Rainer
authors.initials: R
authors.lastname: Boor
authors.forename: Reiner
authors.initials: R
authors.lastname: Siebert
authors.forename: Ulrich
authors.initials: U
authors.lastname: Stephani
authors.forename: Almuth
authors.initials: A
authors.lastname: Caliebe
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D017668:Age of Onset; D002648:Child; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D004569:Electroencephalography / Q000706:statistics & numerical data; D004828:Epilepsies, Partial / Q000235:genetics; D004827:Epilepsy / Q000235:genetics*; D019305:Epilepsy, Rolandic / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D018887:Landau-Kleffner Syndrome / Q000235:genetics; D010641:Phenotype; D017470:Receptors, Glutamate / Q000235:genetics; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics*; D013226:Status Epilepticus / Q000235:genetics; D013577:Syndrome
chemical_list: D017470:Receptors, Glutamate; D016194:Receptors, N-Methyl-D-Aspartate