GRIN2A-related disorders: genotype and functional consequence predict phenotype.
Strehlow V, Heyne HO, Vlaskamp DRM, Marwick KFM, Rudolf G, de Bellescize J, Biskup S, Brilstra EH, Brouwer OF, Callenbach PMC, Hentschel J, Hirsch E, Kind PC, Mignot C, Platzer K, Rump P, Skehel PA, Wyllie DJA, Hardingham GE, van Ravenswaaij-Arts CMA, Lesca G, Lemke JR; GRIN2A study group.
Strehlow V, et al.
Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.
Brain. 2019.
PMID: 30544257
Free PMC article.
The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe developmental and epileptic encephalopathy, often within the epilepsy-aphasia spectrum. ...Other phenotypes such as MRI a …
The phenotypic spectrum ranged from normal or near-normal development with mild epilepsy and speech delay/apraxia to severe develo …