Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.
Epilepsia
; 51(9): 1870-3, 2010 Sep.
Article
em En
| MEDLINE
| ID: mdl-20384727
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades Múltiplas
/
Cromossomos Humanos Par 16
/
Deleção de Sequência
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Epilepsia Rolândica
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Epilepsia
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Deficiência Intelectual
Limite:
Adult
/
Child
/
Humans
Idioma:
En
Revista:
Epilepsia
Ano de publicação:
2010
Tipo de documento:
Article
País de afiliação:
Alemanha