Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

Hattori, Haruo; Fujii, Tatsuya; Nigami, Hiroyuki; Higuchi, Yoshinori; Tsuji, Masahiro; Hamada, Yasushi

doi:10.1016/s0387-7604(00)00178-9

Cited by 21 publications

(11 citation statements)

References 20 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In our study 53 % of the PKD patients were sporadic cases, whereas only 4.8 % of published cases were sporadic [4, 33]. Possibly sporadic forms are underrepresented, because linkage and gene identification studies preferentially focussed on familial forms.…”

Section: Discussionmentioning

confidence: 66%

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

et al. 2012

View full text Add to dashboard Cite

Section: Discussionmentioning

confidence: 66%

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

et al. 2012

View full text Add to dashboard Cite

“…During childhood or adolescence, some patients may develop paroxysmal kinesigenic choreoathetosis. 3 The term infantile convulsions and paroxysmal choreoathetosis (ICCA) has been used to describe patients in whom seizures and paroxysmal choreoathetosis co-occur. 4 Linkage studies of informative families with autosomal dominant paroxysmal kinesigenic choreoathetosis, ICCA, and BFIS identified a locus on the pericentromeric region of chromosome 16p11.2-q12.1.…”

mentioning

confidence: 99%

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

et al. 2012

View full text Add to dashboard Cite

Objective: To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a PRRT2 gene mutation, to study a cohort of probands with a similar phenotype. We extended the study to all available family members to find out whether PRRT2 mutations cosegregated with additional symptoms. Methods:We carried out a clinical and genealogic study of a 3-generation family and of 32 additional probands with BFIS (11 families), infantile convulsions and paroxysmal choreoathetosis (ICCA) (9 families), BFIS/generalized epilepsy with febrile seizures plus (5 families), and sporadic benign neonatal or infantile seizures (7 probands/families). We performed a genetic study consisting of linkage analysis and PRRT2 screening of the 33 probands/families. Results:We obtained a positive linkage in the 16p11.3-q23.1 chromosomal region in the large BFIS family. Mutation analysis of PRRT2 gene revealed a c.649dupC (p.Arg217Profs*8) in all affected individuals. PRRT2 analysis of the 32 additional probands showed mutations in 10, 8 familial and 2 sporadic, probands. Overall we found PRRT2 mutations in 11 probands with a mutation rate of 11 out of 33 (33%). BFIS co-occurred with migraine and febrile seizures in 2 families, with childhood absence epilepsy in one family and with hemiplegic migraine in one family. Conclusion:Our results confirm the predominant role of PRRT2 mutations in BFIS and expand the spectrum of PRRT2-associated phenotypes to include febrile seizures, childhood absence seizures, migraine, and hemiplegic migraine.

show abstract

“…Consequently, it is thought that during the period of PKC, a functional abnormality of the cerebral cortex, particularly in the frontal and perirolandic regions, continued and influenced the occurrence of PKC attacks. According to most previous studies, epileptic discharges were not found in patients with PKC [2,10,12,14]. It is possible that the epileptic discharges might have been overlooked in these studies since, in our series, epileptic discharges were seen in only 17.8 % of all EEG records.…”

Section: Discussionmentioning

confidence: 44%

The Relationship between Paroxysmal Kinesigenic Choreoathetosis and Epilepsy

et al. 2002

View full text Add to dashboard Cite

show abstract

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

Cited by 21 publications

References 20 publications

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine

The Relationship between Paroxysmal Kinesigenic Choreoathetosis and Epilepsy

Contact Info

Product

Resources

About