Publication

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

van Vliet, R., Breedveld, G., de Rijk-van Andel, J., Brilstra, E., Verbeek, N., Verschuuren - Bemelmans, C., Boon, M., Samijn, J., Diderich, K., van de Laar, I., Oostra, B., Bonifati, V. & Maat-Kievit, A., Aug-2012, In : Neurology. 79, 8, p. 777-784 8 p.

Research output: Contribution to journalArticleAcademicpeer-review

APA

van Vliet, R., Breedveld, G., de Rijk-van Andel, J., Brilstra, E., Verbeek, N., Verschuuren - Bemelmans, C., ... Maat-Kievit, A. (2012). PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology, 79(8), 777-784. https://doi.org/10.1212/WNL.0b013e3182661fe3

Author

van Vliet, Rianne ; Breedveld, Guido ; de Rijk-van Andel, Johanneke ; Brilstra, Eva ; Verbeek, Nienke ; Verschuuren - Bemelmans, Cornien ; Boon, Maartje ; Samijn, Johnny ; Diderich, Karin ; van de Laar, Ingrid ; Oostra, Ben ; Bonifati, Vincenzo ; Maat-Kievit, Anneke. / PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. In: Neurology. 2012 ; Vol. 79, No. 8. pp. 777-784.

Harvard

van Vliet, R, Breedveld, G, de Rijk-van Andel, J, Brilstra, E, Verbeek, N, Verschuuren - Bemelmans, C, Boon, M, Samijn, J, Diderich, K, van de Laar, I, Oostra, B, Bonifati, V & Maat-Kievit, A 2012, 'PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions', Neurology, vol. 79, no. 8, pp. 777-784. https://doi.org/10.1212/WNL.0b013e3182661fe3

Standard

PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. / van Vliet, Rianne; Breedveld, Guido; de Rijk-van Andel, Johanneke; Brilstra, Eva; Verbeek, Nienke; Verschuuren - Bemelmans, Cornien; Boon, Maartje; Samijn, Johnny; Diderich, Karin; van de Laar, Ingrid; Oostra, Ben; Bonifati, Vincenzo; Maat-Kievit, Anneke.

In: Neurology, Vol. 79, No. 8, 08.2012, p. 777-784.

Research output: Contribution to journalArticleAcademicpeer-review

Vancouver

van Vliet R, Breedveld G, de Rijk-van Andel J, Brilstra E, Verbeek N, Verschuuren - Bemelmans C et al. PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions. Neurology. 2012 Aug;79(8):777-784. https://doi.org/10.1212/WNL.0b013e3182661fe3


BibTeX

@article{8c6e3ef7bab54eee8a88e5cebc2306c8,
title = "PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions",
abstract = "Objective: To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a movement disorder characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations.Methods: We performed clinical and genetic studies in 3 large families with ICCA, 2 smaller families with PKD, and 4 individuals with sporadic PKD. Migraine was also present in several individuals.Results: We detected 3 different PRRT2 heterozygous mutations: the recurrent p.Arg217Profs*8 mutation, previously reported, was identified in 2 families with ICCA, 2 families with PKD, and one individual with sporadic PKD; one novel missense mutation (p.Ser275Phe) was detected in the remaining family with ICCA; and one novel truncating mutation (p.Arg217*) was found in one individual with sporadic PKD. In the 2 remaining individuals with sporadic PKD, PRRT2 mutations were not detected. Importantly, PRRT2 mutations did not cosegregate with febrile convulsions or with migraine. The estimated penetrance of PRRT2 mutations was 61{\%}, if only the PKD phenotype was considered; however, if infantile convulsions were also taken into account, the penetrance was nearly complete. Considering our findings and those reported in literature, 23 PRRT2 mutations explain similar to 56{\%} of the families analyzed.Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. The identification of PRRT2 as a major gene for the PKD-ICCA-BFIC spectrum allows better disease classification, molecular confirmation of the clinical diagnosis, and genetic testing and counseling. Neurology (R) 2012;79:777-784",
keywords = "HUMAN-CHROMOSOME 16, CHOREOATHETOSIS, MUTATIONS, EPILEPSY, LINKAGE, FAMILY, LOCUS, CONFIRMATION, POPULATION, EXOCYTOSIS",
author = "{van Vliet}, Rianne and Guido Breedveld and {de Rijk-van Andel}, Johanneke and Eva Brilstra and Nienke Verbeek and {Verschuuren - Bemelmans}, Cornien and Maartje Boon and Johnny Samijn and Karin Diderich and {van de Laar}, Ingrid and Ben Oostra and Vincenzo Bonifati and Anneke Maat-Kievit",
year = "2012",
month = "8",
doi = "10.1212/WNL.0b013e3182661fe3",
language = "English",
volume = "79",
pages = "777--784",
journal = "Neurology",
issn = "0028-3878",
publisher = "LIPPINCOTT WILLIAMS & WILKINS",
number = "8",

}

RIS

TY - JOUR

T1 - PRRT2 phenotypes and penetrance of paroxysmal kinesigenic dyskinesia and infantile convulsions

AU - van Vliet, Rianne

AU - Breedveld, Guido

AU - de Rijk-van Andel, Johanneke

AU - Brilstra, Eva

AU - Verbeek, Nienke

AU - Verschuuren - Bemelmans, Cornien

AU - Boon, Maartje

AU - Samijn, Johnny

AU - Diderich, Karin

AU - van de Laar, Ingrid

AU - Oostra, Ben

AU - Bonifati, Vincenzo

AU - Maat-Kievit, Anneke

PY - 2012/8

Y1 - 2012/8

N2 - Objective: To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a movement disorder characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations.Methods: We performed clinical and genetic studies in 3 large families with ICCA, 2 smaller families with PKD, and 4 individuals with sporadic PKD. Migraine was also present in several individuals.Results: We detected 3 different PRRT2 heterozygous mutations: the recurrent p.Arg217Profs*8 mutation, previously reported, was identified in 2 families with ICCA, 2 families with PKD, and one individual with sporadic PKD; one novel missense mutation (p.Ser275Phe) was detected in the remaining family with ICCA; and one novel truncating mutation (p.Arg217*) was found in one individual with sporadic PKD. In the 2 remaining individuals with sporadic PKD, PRRT2 mutations were not detected. Importantly, PRRT2 mutations did not cosegregate with febrile convulsions or with migraine. The estimated penetrance of PRRT2 mutations was 61%, if only the PKD phenotype was considered; however, if infantile convulsions were also taken into account, the penetrance was nearly complete. Considering our findings and those reported in literature, 23 PRRT2 mutations explain similar to 56% of the families analyzed.Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. The identification of PRRT2 as a major gene for the PKD-ICCA-BFIC spectrum allows better disease classification, molecular confirmation of the clinical diagnosis, and genetic testing and counseling. Neurology (R) 2012;79:777-784

AB - Objective: To describe the phenotypes and penetrance of paroxysmal kinesigenic dyskinesia (PKD), a movement disorder characterized by attacks of involuntary movements occurring after sudden movements, infantile convulsion and choreoathetosis (ICCA) syndrome, and benign familial infantile convulsions (BFIC), caused by PRRT2 mutations.Methods: We performed clinical and genetic studies in 3 large families with ICCA, 2 smaller families with PKD, and 4 individuals with sporadic PKD. Migraine was also present in several individuals.Results: We detected 3 different PRRT2 heterozygous mutations: the recurrent p.Arg217Profs*8 mutation, previously reported, was identified in 2 families with ICCA, 2 families with PKD, and one individual with sporadic PKD; one novel missense mutation (p.Ser275Phe) was detected in the remaining family with ICCA; and one novel truncating mutation (p.Arg217*) was found in one individual with sporadic PKD. In the 2 remaining individuals with sporadic PKD, PRRT2 mutations were not detected. Importantly, PRRT2 mutations did not cosegregate with febrile convulsions or with migraine. The estimated penetrance of PRRT2 mutations was 61%, if only the PKD phenotype was considered; however, if infantile convulsions were also taken into account, the penetrance was nearly complete. Considering our findings and those reported in literature, 23 PRRT2 mutations explain similar to 56% of the families analyzed.Conclusions: PRRT2 mutations are the major cause of PKD or ICCA, but they do not seem to be involved in the etiology of febrile convulsions and migraine. The identification of PRRT2 as a major gene for the PKD-ICCA-BFIC spectrum allows better disease classification, molecular confirmation of the clinical diagnosis, and genetic testing and counseling. Neurology (R) 2012;79:777-784

KW - HUMAN-CHROMOSOME 16

KW - CHOREOATHETOSIS

KW - MUTATIONS

KW - EPILEPSY

KW - LINKAGE

KW - FAMILY

KW - LOCUS

KW - CONFIRMATION

KW - POPULATION

KW - EXOCYTOSIS

U2 - 10.1212/WNL.0b013e3182661fe3

DO - 10.1212/WNL.0b013e3182661fe3

M3 - Article

VL - 79

SP - 777

EP - 784

JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 8

ER -

ID: 5653162