FDG PET Findings in Rare Brain Sodium Channelopathy Associated with SCN2A Gene Mutation.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 40929566.
- Also identified by DOI 10.1097/RLU.0000000000006110.
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Abstract
SCN2A gene mutations, which affect the function of the voltage-gated sodium channel NaV1.2, are associated with a spectrum of neurological disorders, including epileptic encephalopathies and autism spectrum disorders. Advanced imaging modalities such as magnetic resonance imaging (MRI) and positron emission tomography (PET) have been instrumental in elucidating the neuroanatomic and functional alterations associated with these mutations.
Medical subject headings
- NAV1.2 Voltage-Gated Sodium Channel
- Positron-Emission Tomography
- Mutation
- Fluorodeoxyglucose F18
- Brain
- Channelopathies