Article
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017
von Stülpnagel C, Ensslen M, Møller R S, Pal D K, Masnada S, Veggiotti P, Piazza E, Dreesmann M, Hartlieb T, Herberhold T, Hughes E, Koch M, Kutzer C, Hoertnagel K, Nitanda J, Pohl M, Rostásy K, Haack T B, Stöhr K, Kluger G, Borggraefe I
Abstract excerpt
OBJECTIVE: To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment. METHODS: Retrospective study of 19 patients (7 females; age: 1-38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG)....
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