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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: A large consanguineous family with a homozygous Metabotropic Glutamate Receptor 7 (mGlu7) variant and developmental epileptic encephalopathy: Effect on protein structure and ligand affinity

Fig. 2

a Sleep (EEG) showing an aspect of hypsarrhythmia: high amplitude and irregular waves and spikes in a background of chaotic and disorganized activity. b Awake EEG showing multifocal spikes discharges. c, d Coronal section of brain MRI from patients carrying the p.Gly471Arg mGlu7 variant. c Coronal section of brain MRI of VI4 patient at the age of 10 years showed a cortical and sub-cortical atrophy. d Coronal section of brain MRI of VI1 patient at the age of 2 years showed a discrete hyper T2 of posterior SB

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172