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