GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

doi:10.1038/ng.2726

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Article

GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.

Nature genetics - 1 Sept 2013

Lesca Gaetan, Rudolf Gabrielle, Bruneau Nadine, Lozovaya Natalia, Labalme Audrey, Boutry-Kryza Nadia, Salmi Manal, Tsintsadze Timur, Addis Laura, Motte Jacques, Wright Sukhvir, Tsintsadze Vera, Michel Anne, Doummar Diane, Lascelles Karine, Strug Lisa, Waters Patrick, de Bellescize Julitta, Vrielynck Pascal, de Saint Martin Anne, Ville Dorothee, Ryvlin Philippe, Arzimanoglou Alexis, Hirsch Edouard, Vincent Angela, Pal Deb, Burnashev Nail, Sanlaville Damien, Szepetowski Pierre

Abstract excerpt

Epileptic encephalopathies are severe brain disorders with the epileptic component contributing to the worsening of cognitive and behavioral manifestations. Acquired epileptic aphasia (Landau-Kleffner syndrome, LKS) and continuous spike and waves during slow-wave sleep syndrome (CSWSS) represent rare and closely related childhood focal epileptic encephalopathies of unknown etiology. They show electroclinical...

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PMID: 23933820
DOI: 10.1038/ng.2726

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