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Table 2 Clinical features and comparative data of our index case with the patients described by Marafi et al. [7]

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

Reference Marafi et al. 2020 [7] Our study
Mutation p.I154T p.R658W p.T675K p.W586* p.R658Q p.E891K p.R659* p.G471R
Domain Ligand-binding domain Transmembrane domain Transmembrane domain Transmembrane domain Intracellular domain Trans-membrane domain Ligand-binding domain
Sex M M F M F M M M F M M F(VI4)
Current age 13 yrs 10 yrs 15 yrs 10 yrs Died at 13 yrs N/A Died at 13 mo (respiratory failure) Died at 45 days Died at 4 yrs 2 yrs 2 mo Died at 5 yrs 13yrs
Age at last Exam 13 yrs. 10 yrs. 15 yrs. 10 yrs. N/A 5 yrs. 6 mo. 13 mo. 1 mo. 3 yrs. 3 mo. 7 mo. 20 mo. 13 yrs.
Occipital frontal circumference-last exam cm (z score) 50 cm (−2.9sd) N/A 50.5 cm (−3.31sd) 48.6 cm (−3.29sd) N/A (<−2 sd) N/A (<−2 sd) N/A N/A 42.5 (−3.8 sd) 40 cm (−3.2 sd 44.5 cm (−2.7 sd) 49 .5cm (−2sd)
Microcephaly + N/A + + + + N/A N/A + + + +
Axial Hypotonia + + + + N/A N/A + N/A + + + +
Peripheral hypertonia + + + + N/A + N/A N/A + + +
Hyper-reflexia + + N/A N/A N/A N/A N/A + + +
DD/ID + + + + + + + + + + + +
Seizures (onset) + (4 mo.) + (8 mo.) + (1 mo.) + (1date of life) + + (3 w) + (3 mo.) + (1 w) + (5 mo.) + (2 mo.) + (2d) + (3 mo.)
Drug resistant epilepsy (current anti -epileptic drugs + + N/A N/A + + + + +
Seizure types Myoclonic GTCS Myoclonic & GTCS Myoclonic & GTCS N/A N/A N/A N/A GTCS & focal Myoclonic & GTCS Multifocal Focal tonic, epileptic spasm
Status epilepticus + N/A N/A + N/A + +
Electro-encephalogram (EEG) findings
Epileptiform activity
+ N/A + N/A N/A + + + + +
Type of neuroimaging (age) Brain MRI (3 yrs) Brain MRI (2 yrs) Serial brain MRIs (2 mo, 18 mo, 3 yrs, 7 yrs & 10 yrs) Serial brain MRIs (2 yrs & 5 yrs) N/A Brain MRI (N/A) CT head (2 mo) Brain MRI (2 w) Brain MRI (3 yrs) Brain MRI (6 mo) Brain MRI (18 mo) Brain MRI (3 yrs)
Neuroimaging findings
Cerebral atrophy
+ + + + N/A + + + + +
Hypomyelination + + + N/A + + + + +
Corpus callosum thinning + + + + N/A N/A N/A + + + +
Facial dysmorphy At 13 yrs showing prominent teeth and everted lower lip. Facial photograph of individual II-2
(Family 1) at 10 yrs shows high forehead and hypotonic face
Facial photograph of individual II-1 (Family 2) at 15 yrs shows a wide mouth Facial photograph of individual II-2 (Family 2) at 10 yrs shows a wide mouth. Facial features of individual II-6 at 6 yrs showing thick lips, crowded teeth, low frontal
Hairline, remarkable nose, and bulbous nasal tip.
      Frontal hump, convergent strabismus of the eye, globular eyes, incisors large and prominent, prominent upper dental arch
  1. F, female; M, male; N/A, not available; SD, standard deviation; d, day; mo, Months; yrs, years; GTC, generalized tonic-clonic; w, weeks; DD/ID, Developmental delay/intellectual disability