PRRT2 is mutated in familial and non-familial benign infantile seizures

European Journal of Paediatric Neurology

Volumn 17, Issue 1, 2013, Pages 77-81

  Specchio, Nicola ^a   Terracciano, Alessandra ^a   Trivisano, Marina ^b   Cappelletti, Simona ^a   Claps, Dianela ^a   Travaglini, Lorena ^a   Cusmai, Raffaella ^a   Marras, Carlo Efisio ^a   Zara, Federico ^c   Fusco, Lucia ^a   Bertini, Enrico ^a   Vigevano, Federico ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b UNIVERSITY OF FOGGIA   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Benign familial infantile seizures; Choreoathetosis; Epilepsy; Genetics; PRRT2

Indexed keywords

CARBAMAZEPINE; MEMBRANE PROTEIN; PHENOBARBITAL; PROTEIN RICH TRANSMEMBRANE PROTEIN 2; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BENIGN CHILDHOOD EPILEPSY; CHILD; CHOREOATHETOSIS; CLINICAL ARTICLE; COGNITION; CONVULSION; DYSKINESIA; FAMILIAL BENIGN INFANTILE SEIZURE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; INFANT; INFANTILE CONVULSION AND CHOREOATHETOSIS; MALE; MUTATIONAL ANALYSIS; NEUROPHYSIOLOGY; PAROXYSMAL KINESIGENIC DYSKINESIA; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SEIZURE;

ADULT; AGE OF ONSET; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DYSTONIA; EPILEPSY, BENIGN NEONATAL; FEMALE; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; SEIZURES; YOUNG ADULT;

EID: 84872118283     PISSN: 10903798     EISSN: 15322130     Source Type: Journal    
DOI: 10.1016/j.ejpn.2012.07.006     Document Type: Article

References (10)

1. S. Ono, K. Yoshiura, and A. Kinoshita Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions J Hum Genet 57 2012 338 341
2. S.E. Heron, B.E. Grinton, and S. Kivity PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome Am J Hum Genet 90 2012 152 160
3. H.Y. Lee, Y. Huang, and N. Bruneau Mutations in the novel protein PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions Cell Rep 1 2012 2 12
4. F. Vigevano, L. Fusco, and M. Di Capua Benign infantile familial convulsions Eur J Pediatr 151 1992 608 612
5. A.T. Berg, S.F. Berkovic, and M.J. Brodie Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009 Epilepsia 51 2010 676 685
6. P. Szepetowski, J. Rochette, and P. Berquin 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
7. W.J. Chen, Y. Lin, and Z.Q. Xiong Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia Nat Genet 43 2011 1252 1255
8. J.L. Wang, L. Cao, and X.H. Li Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias Brain 134 2011 3493 3501
9. J. Schubert, R. Paravidino, and F. Becker PRRT2 mutations are the major cause of benign familial infantile seizures (BFIS) Hum Mutat 2012 10.1002/humu.22126
10. L. Cao, X.J. Huang, and L. Zheng Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot Parkinsonism Relat Disord 18 2012 704 706