Mostrando 1 - 3 Resultados de 3 Para Buscar '"Reporte Grin"', tiempo de consulta: 0.90s Limitar resultados
  1. 1
    “…In vitro analysis with NMDA receptor blockers indicated that GLuN2A-L812M-containing NMDARs retained their sensitivity to the use-dependent channel blocker memantine; while screening of a previously reported GRIN2A mutation (N615K) with these compounds produced contrasting results. …”
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    GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
  2. 2
    “…We report the case of a patient heterozygous for GRIN2A, c.1081C>T, presenting with febrile convulsions and later superimposed atonic seizures, expressive language delay, and macrocephaly. As the number of reported GRIN2A variants is continuously increasing, the phenotypic boundaries gradually grow faint. …”
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    GRIN2A Variant in A 3-Year-Old—An Expanding Spectrum?
  3. 3
    “…The disorder's rarity is emphasized by roughly 100 reported GRIN2B-related cases, spotlighting the gene's significance in brain development. …”
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    Autosomal Dominant Intellectual Development Disorder-6 (MRD6) Without Seizures Linked to a De Novo Mutation in the grin2b Gene Revealed by Exome Sequencing: A Case Report of a Moroccan Child
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