Article
GRIN2A mutations cause epilepsy-aphasia spectrum disorders.
Nature genetics - 1 Sept 2013
Carvill Gemma L, Regan Brigid M, Yendle Simone C, O'Roak Brian J, Lozovaya Natalia, Bruneau Nadine, Burnashev Nail, Khan Adiba, Cook Joseph, Geraghty Eileen, Sadleir Lynette G, Turner Samantha J, Tsai Meng-Han, Webster Richard, Ouvrier Robert, Damiano John A, Berkovic Samuel F, Shendure Jay, Hildebrand Michael S, Szepetowski Pierre, Scheffer Ingrid E, Mefford Heather C
Abstract excerpt
Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic electroencephalogram (EEG) pattern and developmental regression particularly affecting language. Rare pathogenic deletions that include GRIN2A have been implicated in neurodevelopmental disorders. We sought to delineate the pathogenic role of GRIN2A in 519 probands with epileptic...
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