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Familial temporal lobe epilepsy as a presenting feature of choreoacanthocytosis.

Abstract:

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...

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Publication status:
Published

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Journal:
Epilepsia
Volume:
46
Issue:
8
Pages:
1256-1263
Publication date:
2005-08-05
DOI:
EISSN:
1528-1167
ISSN:
0013-9580
URN:
uuid:82e7381c-a11f-4b2d-b31d-18ca5dd1a579
Source identifiers:
39602
Local pid:
pubs:39602

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