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Table 1 Clinical features and comparative data of affected individuals of the studied family

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

  VI4 VI6 VI8 VI1 VI2 V1
Age (years) 13 32 30 9 7 41
Gender F M M M F F
Epilepsy
 Age at onset of seizure 3 months 1 years 1 years 16 months 1 years ND
 Seizure type Epileptic spasm Generalized tonic-clonic seizures Generalized tonic-clonic seizures Focal seizures
Tonic seizures
Generalized tonic-clonic seizures Generalized tonic-clonic seizures
 Persistent epilepsy No seizure since the age of 11 years Yes Yes No Yes Yes
Intellectual disability Profound Profound Profound Profound Profound Profound
Microcephaly Yes (-2DS) ND ND ND ND ND
Langage Absence Absence Absence Absence Absence Language disorder
Psychomotor development Delay Delay Delay Delay Delay Delay
Stereotypies Yes Yes Yes Yes Yes Yes
Behavioral disorders Bruxism
Gestural stereotypy: (stereotypy of the head, hands in the mouth, washing)
Hetero-aggressive reaction
Onychophagy
Verbal stereotypy
agitation
Self-aggression
Hetero-aggressivity
Gestural stereotypy (tapping, sway of the anterior-posterior trunk, washing)
Agitation
Self-aggression
Hetero-aggressivity
Gestural stereotypy (tapping, sway of the anteroposterior trunk, washing)
Verbal stereotypy
Agitation
Self-aggression
Hetero-aggressivity
Gestural stereotypy (tapping, sway of the anterior-posterior trunk)
Hetero-aggressive
Facial dysmorphism (Fig. 3) Frontal hump, convergent strabismus of the eye, globular eyes, incisors large and prominent, prominent upper dental arch Wide mouth, small eyes Wide mouth, macroglossia ND ND Large globular eyes, convergent strabismus
MRI (Fig. 2c, d) Cortical and subcortical atrophy and thin corpus callosum (at the age of 3 years) ND ND Discrete hyper T2 of posterior SB (at the age of 2 years) ND ND
  1. ND, not determined; F, female; M, male