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Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region
Author(s) -
Reutlinger Constanze,
Helbig Ingo,
Gawelczyk Barbara,
Subero Jose Ignacio Martin,
Tönnies Holger,
Muhle Hiltrud,
Finsterwalder Katrin,
Vermeer Sascha,
Pfundt Rolph,
Sperner Jürgen,
Stefanova Irina,
GillessenKaesbach Gabriele,
Von Spiczak Sarah,
Van Baalen Andreas,
Boor Rainer,
Siebert Reiner,
Stephani Ulrich,
Caliebe Almuth
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.1528-1167.2010.02555.x
Subject(s) - rolandic epilepsy , status epilepticus , epilepsy , intellectual disability , neuroscience , electroencephalography , psychology , seizure types , medicine , psychiatry
Summary 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.