Two Patients With a GRIN2A Mutation and Childhood-onset Epilepsy |
| |
| Affiliation: | 1. Multiple Sclerosis Unit, Department of Neurology, Hospital Universitari de Bellvitge-IDIBELL, Edifici Tècnic-Quirúrgic, Planta 1, mòdul E, Feixa Llarga s/n, L''Hospitalet de Llobregat 08907, Spain;2. Translational Research Laboratory, Institut Català d''Oncologia-IDIBELL, Gran via s/n, L''Hospitalet de Llobregat 08907, Spain;3. Department of Neurology, Joan XXIII University Hospital, Universitat Rovira i Virgili, Dr. Mallafrè Guasch, 4, Tarragona 43005, Spain;4. Department of Neurology, Hospital del Mar Medical Research Institute, Dr. Aiguader, 88, Barcelona 08003, Spain;1. Department of Surgical and Morphological Sciences, University of Insubria, via O. Rossi 9, IT-21100 Varese, Italy;2. Ospedale di Circolo di Varese, Unit of Pathology, via O. Rossi 9, IT-21100 Varese, Italy;3. CRO Aviano National Cancer Institute, Unit of Experimental Oncology 1, via F. Gallini 2, IT-33081 Aviano, PN, Italy |
| |
| Abstract: | BackgroundN-methyl-d-aspartate is a key neurotransmitter within the central nervous system and its dysfunction can play an important role in epilepsy. Mutations of genes involving the N-methyl-d-aspartate receptor have been implicated in a wide variety of neuropsychiatric disorders including epilepsy, specifically, within the glutamate receptor ionotropic N-methyl-d-aspartate 2A (GRIN2A).PatientsWe report two patients with a glutamate receptor ionotropic N-methyl-d-aspartate 2A mutation who presented with epilepsy.ConclusionsIndividuals with a glutamate receptor ionotropic N-methyl-d-aspartate 2A mutation exhibit a broad clinical spectrum. |
| |
| Keywords: | GRIN2A epilepsy NMDA receptors |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
