Global InformationInfantile convulsions and choreoathetosis information
| Infantile convulsions and choreoathetosis | |
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| Other names | Paroxysmal kinesigenic dyskinesia and infantile convulsions |
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| Infantile convulsions and choreoathetosis is inherited via an autosomal dominant manner | |
Infantile convulsions and choreoathetosis (ICCA) syndrome is a neurological genetic disorder with an autosomal dominant mode of inheritance. It is characterized by the association of benign familial infantile epilepsy (BIFE) at age 3–12 months and later in life with paroxysmal kinesigenic choreoathetosis. The ICCA syndrome was first reported in 1997 in four French families from north-western France and provided the first genetic evidence for common mechanisms shared by benign infantile seizures and paroxysmal dyskinesia.[1] The epileptic origin of PKC has long been a matter of debates[2] and PD have been classified as reflex epilepsies. Indeed, attacks of PKC and epileptic seizures have several characteristics in common, they both are paroxysmal in presentation with a tendency to spontaneous remission, and a subset of PKC responds well to anticonvulsants. This genetic disease has been mapped to chromosome 16p-q12.[3] More than 30 families with the clinical characteristics of ICCA syndrome have been described worldwide so far.[4][5]
- ^ Rochette, J; Roll, P; Szepetowski, P (2008). "Genetics of infantile seizures with paroxysmal dyskinesia: The infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes". Journal of Medical Genetics. 45 (12): 773–79. doi:10.1136/jmg.2008.059519. PMID 19047496.
- ^ Szepetowski et al. 2007. In Fejerman N. eds. Benign focal epilepsies in infancy, childhood and adolescence. Paris. John Libbey Eurotext : 51-62
- ^ Szepetowski, P; Rochette, J; Berquin, P; Piussan, C; Lathrop, GM; Monaco, AP (1997). "Familial infantile convulsions and paroxysmal choreoathetosis: A new neurological syndrome linked to the pericentromeric region of human chromosome 16". American Journal of Human Genetics. 61 (4): 889–898. doi:10.1086/514877. PMC 1715981. PMID 9382100.
- ^ Rochette J. et al. 2010. Epileptic Disorders 12 : 199-204
- ^ Striano P. et al. 2006. Epilepsia 47 : 1029-1034