PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

American Journal of Human Genetics

Volumn 90, Issue 1, 2012, Pages 152-160

  Heron, Sarah E ^a   Grinton, Bronwyn E ^b   Kivity, Sara ^c   Afawi, Zaid ^d   Zuberi, Sameer M ^e   Hughes, James N ^f   Pridmore, Clair ^g   Hodgson, Bree L ^a   Iona, Xenia ^a   Sadleir, Lynette G ^h   Pelekanos, James ^b,i   Herlenius, Eric ^j   Goldberg Stern, Hadassa ^c   Bassan, Haim ^k   Haan, Eric ^g   Korczyn, Amos D ^d   Gardner, Alison E ^g   Corbett, Mark A ^g   Gécz, Jozef ^f,g,l   Thomas, Paul Q ^f   Mulley, John C ^f,g,l   Berkovic, Samuel F ^b   Scheffer, Ingrid E ^b   Dibbens, Leanne M ^a   more..

^a UNIVERSITY OF SOUTH AUSTRALIA   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^f UNIVERSITY OF ADELAIDE   (Australia)

^g WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^h UNIVERSITY OF OTAGO   (New Zealand)

ⁱ UNIVERSITY OF QUEENSLAND   (Australia)

^j KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^k TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^l UNIVERSITY OF ADELAIDE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; PROLINE RICH PROTEIN; PROLINE RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG;

ARTICLE; BASAL GANGLION; BENIGN CHILDHOOD EPILEPSY; BRAIN CORTEX; CHOREOATHETOSIS; CONTROLLED STUDY; FAMILY; GENE; GENE MUTATION; GENE SEQUENCE; HETEROZYGOSITY; HUMAN; PLEIOTROPY; PRIORITY JOURNAL; PRRT2 GENE; SEIZURE;

AGE OF ONSET; ANIMALS; ATHETOSIS; BASE SEQUENCE; BRAIN; CHILD, PRESCHOOL; CHOREA; CHROMOSOMES, HUMAN, PAIR 16; EPILEPSY, BENIGN NEONATAL; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SEIZURES;

EID: 84855827661     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.12.003     Document Type: Article

References (26)

1. M. Guipponi, F. Rivier, F. Vigevano, C. Beck, A. Crespel, B. Echenne, P. Lucchini, R. Sebastianelli, M. Baldy-Moulinier, and A. Malafosse Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q Hum. Mol. Genet. 6 1997 473 477 (Pubitemid 27116469)
2. H.Y. Li, N. Li, H. Jiang, L. Shen, J.F. Guo, R.X. Zhang, K. Xia, Q. Pan, X.H. Zi, and B.S. Tang A novel genetic locus for benign familial infantile seizures maps to chromosome 1p36.12-p35.1 Clin. Genet. 74 2008 490 492
3. R. Caraballo, S. Pavek, A. Lemainque, M. Gastaldi, B. Echenne, J. Motte, P. Genton, R. Cersósimo, V. Humbertclaude, and N. Fejerman Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome Am. J. Hum. Genet. 68 2001 788 794 (Pubitemid 32202773)
4. Y.G. Weber, A. Berger, N. Bebek, S. Maier, S. Karafyllakes, N. Meyer, Y. Fukuyama, A. Halbach, C. Hikel, and G. Kurlemann Benign familial infantile convulsions: Linkage to chromosome 16p12-q12 in 14 families Epilepsia 45 2004 601 609 (Pubitemid 38802206)
5. P.M. Callenbach, E.H. van den Boogerd, R.F. de Coo, R. ten Houten, J.C. Oosterwijk, G. Hageman, R.R. Frants, O.F. Brouwer, and A.M. van den Maagdenberg Refinement of the chromosome 16 locus for benign familial infantile convulsions Clin. Genet. 67 2005 517 525 (Pubitemid 40637450)
6. P. Striano, M.L. Lispi, E. Gennaro, F. Madia, M. Traverso, L. Bordo, P. Aridon, F.M. Boneschi, B. Barone, and B. dalla Bernardina Linkage analysis and disease models in benign familial infantile seizures: A study of 16 families Epilepsia 47 2006 1029 1034 (Pubitemid 43801513)
7. Y.G. Weber, M. Jacob, G. Weber, and H. Lerche A BFIS-like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2-16q12.1 Epilepsia 49 2008 1959 1964
8. P. Szepetowski, J. Rochette, P. Berquin, C. Piussan, G.M. Lathrop, and A.P. Monaco Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 Am. J. Hum. Genet. 61 1997 889 898 (Pubitemid 27418464)
9. J. Rochette, P. Roll, and P. Szepetowski Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes J. Med. Genet. 45 2008 773 779
10. J. Rochette, P. Roll, Y.H. Fu, A.G. Lemoing, B. Royer, A. Roubertie, P. Berquin, J. Motte, S.W. Wong, and A. Hunter Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome Epileptic Disord. 3 2010 199 204
11. D.C. Reutens, R.A. Howell, K.E. Gebert, and S.F. Berkovic Validation of a questionnaire for clinical seizure diagnosis Epilepsia 33 1992 1065 1071 (Pubitemid 23005266)
12. G.M. Lathrop, and J.M. Lalouel Easy calculations of lod scores and genetic risks on small computers Am. J. Hum. Genet. 36 1984 460 465 (Pubitemid 14173577)
13. P. Roll, D. Sanlaville, J. Cillario, A. Labalme, N. Bruneau, A. Massacrier, M. Délepine, P. Dessen, V. Lazar, and A. Robaglia-Schlupp Infantile convulsions with paroxysmal dyskinesia (ICCA syndrome) and copy number variation at human chromosome 16p11 PLoS ONE 5 2010 e13750
14. M.A. Corbett, M. Bahlo, L. Jolly, Z. Afawi, A.E. Gardner, K.L. Oliver, S. Tan, A. Coffey, J.C. Mulley, and L.M. Dibbens A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24 Am. J. Hum. Genet. 87 2010 371 375
15. M.A. Corbett, M. Schwake, M. Bahlo, L.M. Dibbens, M. Lin, L.C. Gandolfo, D.F. Vears, J.D. O'Sullivan, T. Robertson, and M.A. Bayly A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia Am. J. Hum. Genet. 88 2011 657 663
16. W.J. Chen, Y. Lin, Z.Q. Xiong, W. Wei, W. Ni, G.H. Tan, S.L. Guo, J. He, Y.F. Chen, and Q.J. Zhang Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nat. Genet. 43 2011 1252 1255
17. L.M. Dibbens, P.S. Tarpey, K. Hynes, M.A. Bayly, I.E. Scheffer, R. Smith, J. Bomar, E. Sutton, L. Vandeleur, and C. Shoubridge X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment Nat. Genet. 40 2008 776 781 (Pubitemid 351748867)
18. U. Stelzl, U. Worm, M. Lalowski, C. Haenig, F.H. Brembeck, H. Goehler, M. Stroedicke, M. Zenkner, A. Schoenherr, and S. Koeppen A human protein-protein interaction network: A resource for annotating the proteome Cell 122 2005 957 968 (Pubitemid 41345212)
19. H. Najmabadi, H. Hu, M. Garshasbi, T. Zemojtel, S.S. Abedini, W. Chen, M. Hosseini, F. Behjati, S. Haas, and P. Jamali Deep sequencing reveals 50 novel genes for recessive cognitive disorders Nature 478 2011 57 63
20. +-channel β1 subunit gene SCN1B Nat. Genet. 19 1998 366 370 (Pubitemid 28357909)
21. A) receptor γ2-subunit in childhood absence epilepsy and febrile seizures Nat. Genet. 28 2001 49 52 (Pubitemid 32405816)
22. D.E. Crompton, and S.F. Berkovic The borderland of epilepsy: Clinical and molecular features of phenomena that mimic epileptic seizures Lancet Neurol. 8 2009 370 381
23. A. Suls, P. Dedeken, K. Goffin, H. Van Esch, P. Dupont, D. Cassiman, J. Kempfle, T.V. Wuttke, Y. Weber, and H. Lerche Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1 Brain 131 2008 1831 1844 (Pubitemid 351957463)
24. S.A. Mullen, A. Suls, P. De Jonghe, S.F. Berkovic, and I.E. Scheffer Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency Neurology 75 2010 432 440
25. S.E. Heron, and J.C. Mulley The molecular genetics of benign epilepsies of infancy Z. Afawi, Clinical and Genetic Aspects of Epilepsy 2011 Intech Open Rijeka, Croatia 95 112
26. J.C. Mulley, S.E. Heron, and L.M. Dibbens Proposed genetic classification of the "benign" familial neonatal and infantile epilepsies Epilepsia 52 2011 649 650