Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
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.
Reutlinger
Constanze
C
Northern German Epilepsy Center for Children and Adolescents, Raisdorf, Germany.
Helbig
Ingo
I
Gawelczyk
Barbara
B
Subero
Jose Ignacio Martin
JI
Tönnies
Holger
H
Muhle
Hiltrud
H
Finsterwalder
Katrin
K
Vermeer
Sascha
S
Pfundt
Rolph
R
Sperner
Jürgen
J
Stefanova
Irina
I
Gillessen-Kaesbach
Gabriele
G
von Spiczak
Sarah
S
van Baalen
Andreas
A
Boor
Rainer
R
Siebert
Reiner
R
Stephani
Ulrich
U
Caliebe
Almuth
A
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
D017470:Receptors, Glutamate; D016194:Receptors, N-Methyl-D-Aspartate