Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
PURPOSE: Choreoacanthocytosis (ChAc) is an autosomal recessive disorder caused by mutations in VPS13A on chromosome 9q21 and characterized by neurodegeneration and red cell acanthocytosis. Seizures are not uncommon in ChAc but have not been well characterized in the literature. We report two ChAc f...
| Autori principali: | , , , , , , , , , , , |
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| Natura: | Journal article |
| Lingua: | English |
| Pubblicazione: |
2005
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