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1 patient data entry collated from reference Roshal et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
456W748S5
A467T2
Focal parieto-occipital lobe seizures, migraine headaches, cerebellar ataxia, sensory–motor axonal neuropathy, and impairment of visual perception and cognitive function.
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
-headache/ migraine
juvenile
1615n/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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