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Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.

Abstract:

We have studied one family of Chinese origin, in which benign infantile convulsions and paroxysmal choreoathetosis (of the dystonic form) were co-inherited as a single autosomal dominant trait. This association is specific to ICCA syndrome, which we have recently described in four French families. Some patients in the new family also exhibit recurrence of epileptic seizures at a much later age, making the ICCA syndrome in this family atypical. DNA samples isolated from this family of 22 membe...

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Publication status:
Published

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Publisher copy:
10.1007/s004390050876

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Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
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Journal:
Human genetics
Volume:
103
Issue:
5
Pages:
608-612
Publication date:
1998-11-01
DOI:
EISSN:
1432-1203
ISSN:
0340-6717
Source identifiers:
36790
Language:
English
Keywords:
Pubs id:
pubs:36790
UUID:
uuid:cd132764-1453-4017-afa4-285122d00a54
Local pid:
pubs:36790
Deposit date:
2012-12-19

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