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Article

GRM7-related disorder: five additional patients from three independent families and review of the literature.

European journal of medical genetics - 1 Feb 2024

Januel Louis, Chatron Nicolas, Rivier-Ringenbach Clotilde, Cabet Sara, Labalme Audrey, Sahin Yavuz, Darvish Hossein, Kruer Michael, Bakhtiari Somayeh, Sanlaville Damien, de Sainte Agathe Jean Madeleine, Lesca Gaetan

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) refer to a group of severe epileptic syndromes characterized by seizures as well as a developmental delay which can be a consequence of the underlying etiology and/or the epileptic encephalopathy. The genes responsible for DEEs are numerous and their number is increasing since the availability of Next-Generation Sequencing. Pathogenic variants in GRM7, encoding...

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Identifiers

PMID: 38070825
DOI: 10.1016/j.ejmg.2023.104893

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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