- Abstract:
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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 families in which patients presented with temporal lobe epilepsy. METHODS: Detailed medical and family histories were obtained. EEG, video-telemetry, brain magnetic resonance imaging (MRI) with volu...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1111/j.1528-1167.2005.65804.x
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- Journal:
- Epilepsia
- Volume:
- 46
- Issue:
- 8
- Pages:
- 1256-1263
- Publication date:
- 2005-08-05
- DOI:
- EISSN:
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1528-1167
- ISSN:
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0013-9580
- URN:
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uuid:82e7381c-a11f-4b2d-b31d-18ca5dd1a579
- Source identifiers:
-
39602
- Local pid:
- pubs:39602
- Copyright date:
- 2005
Journal article
Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.
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