Megalencephaly with dysmyelination, spasticity, ataxia, seizures and distinctive neurophysiological findings in two siblings. [electronic resource]
Producer: 19901204Description: 164-8 p. digitalISSN:- 0174-304X
- Biopsy
- Cerebellar Ataxia -- genetics
- Child, Preschool
- Consanguinity
- Demyelinating Diseases -- genetics
- Diffuse Cerebral Sclerosis of Schilder -- genetics
- Electroencephalography
- Evoked Potentials -- physiology
- Female
- Frontal Lobe -- pathology
- Humans
- Microscopy, Electron
- Muscle Spasticity -- genetics
- Myelin Sheath -- ultrastructure
- Seizures -- genetics
- Skull -- abnormalities
- Tomography, X-Ray Computed
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Publication Type: Case Reports; Journal Article
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