| 概要 |
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is a suite of neurodevelopmental abnormalities displaying ataxia, motor and speech delay, and intellectual disability. The GRIK2 gene, which encodes a subunit of the kainate receptor, has been identified as causative for this disorder. Kainate receptors are glutamate-gated cation channels with diverse roles in the central nervous system.
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| 著者 |
Guzman YF, Ramsey K, Stolz JR, Craig DW, Huentelman MJ, Narayanan V, Swanson GT |
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| 著者 |
Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Ounap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT |
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