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. 2018 Nov 12;3(4):524–527. doi: 10.1002/epi4.12263

Table 1.

Comparison between NECAP1 patients and DNM1 patients

Current report and Alazami et al. PMID: 29427836; 29588952; 23934111; 26648591; 25262651; 25533962; 27806796; 27476654; 26611353; 28667181
Gene NECAP1 DNM1
Inheritance AR AD
Number of patients 7 29
Seizure type at onset Generalized tonic and clonic, generalized tonic, hemispasms Infantile spasms, absence seizures, myoclonic, generalized tonic and clonic, head dropping
Age of onset 3 months, NA 0–13 months, 4.5 years
Antiepileptic drug response + +
EGG Generalized slowing and frequent generalized epileptiform discharges Slow background, multifocal discharges, hypsarrhythmia, modified hypsarrhythmia
GDD 100% 100%
Hypotonia + +
MRI
  • Thinning of the corpus callosum

  • Delayed myelination for the patient's age

  • Moderate supratentorial ventriculomegaly

  • Generalized brain atrophy

  • Normal

  • Generalized cerebral atrophy

  • Delayed myelination for the patient's age

  • Frontal lobe hypoplasia

  • Mega cisterna magna

  • Posterior skull flattening

AR, autosomal recessive; AD, autosomal dominant; EEG, electroencephalography; GDD, global developmental delay; MRI, magnetic resonance imaging; NA, not available.