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Table 1 Physical, neurodevelopmental and behavioural features of patients identified with homozygous CNTNAP2 mutations resulting in CASPR2 deficiency disorder

From: Characterisation of CASPR2 deficiency disorder - a syndrome involving autism, epilepsy and language impairment

   Strauss et al., 2006, Jackman et al., 2009 Zweier et al., 2009 Orrico et al., 2001 Watson et al., 2014 This study
Patients   18 2 3 2
Mutation DNA variant c.3709delG CNV del ex 2–9 CNV del ex 3 CNV del ex 2–3
Effect Early STOP codon In frame deletion Frameshift, early STOP codon Frameshift, early STOP codon
Resulting protein I1253X del.33–500 A156X L39X
Development Pregnancy NR Normal Normal Normal
Intellectual disability Severe Severe Severe Severe
Psychomotor delay + Mild + +
Gross motor delay + Mild + -
Ataxic cerebral palsy NR NR + -
Morphology Dysmorphic NR + Mild +
Low forehead/hairline NR + NR +
Arched palate NR - NR +
Dental malocclusion NR - NR +
Obesity NR - NR +
Gait NR NR Broad-based ataxic gait Awkward gait (only one sib)
Behaviour Autism + - - +
Autistic features + + + +
Motor stereotypies NR + + +
Communicative impairment + + + +
Behavioural problems + + + +
Inertia/apathy NR NR NR +
Agression + NR NR +
ADHD + NR restlessness -
Epilepsy Seizures Yes Yes Yes Yes
Age onset (months) 13–20 22–30 24 20–36
Therapy Refractive Refractive Carbamazepine or valproate P1 - Carbamazepine, P2 - Refractive
Language Language impairment/regression + + + +
Vocal tics NR NR NR +
Limited/absent language + + + +
Neurological Dysplasia + + NR +
Breathing/other Hyperventilation NR + NR -
Apnea NR +/− (only one sib) NR -
Cyanoses NR +/− (only one sib) NR +
Loss of consciousness NR +/− (only one sib) NR +
  1. NR Not reported