Varaico: Literature-Extracted Genetic Variants

Gene:GRIN2D
Variant:p.M681I
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GRIN2D

NM_000836.4:p.M681I

Associated Papers

Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy.

Teoh J et al.

Brain : a Journal of Neurology, 2025

Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.

Henry OJ et al.

Epilepsia, 2025

40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01

Genetic aetiologies in relation to response to the ketogenic diet in 226 children with epilepsy.

Dahlin M et al.

Brain Communications, 2025

40290421 (PubMed )
Supplement: fcaf134_supplementary_data.zip › Dahlin_et_al._Supplementary_table_3_revised.xlsx › Bara_EP

Identification of a novel GRIN2D variant in a neonate with intractable epileptic encephalopathy-a case report.

Jiao J et al.

Bmc Pediatrics, 2021

Heterogeneous clinical and functional features of GRIN2D-related developmental and epileptic encephalopathy.

XiangWei W et al.

Brain : a Journal of Neurology, 2019

GRIN2D variants in three cases of developmental and epileptic encephalopathy.

Tsuchida N et al.

Clinical Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."